How to treat turner syndrome

Articles On May-Thurner Syndrome

  • What Is May-Thurner Syndrome?
  • What Is DVT?

May-Thurner syndrome, also known as iliac vein compression syndrome or Cockett’s syndrome, affects two blood vessels that go to your legs. It could make you more likely to have a DVT (deep vein thrombosis) in your left leg.

Your blood vessels carry blood to every part of your body. Your arteries move blood away from your heart, and your veins bring it back. Sometimes, arteries and veins cross over each other. Normally, that’s not a problem. But it is if you have May-Thurner syndrome.

This condition involves your right iliac artery, which carries blood to your right leg, and the left iliac vein, which brings blood out of your left leg toward yourВ heart.

In May-Thurner syndrome, the right iliac artery squeezes the left iliac vein when they cross each other in your pelvis. Because of that pressure, blood can’t flow as freely through the left iliac vein. It’s a bit like stepping partway down on a hose.

The result: You’re more likely to get a deep vein thrombosis (DVT) in your left leg. A DVT is a type of blood clot that can be very serious. It’s not just that it can block blood flow in your leg. It can also break off and cause a clot in your lung. That’s called a pulmonary embolism, and it can be life-threatening.

Causes and Risk Factors

May-Thurner syndrome is random. It isn’t something in your genes that you get from your parents.

The crossover of those blood vessels is normal. But in some cases, they are positioned in a way that the right iliac artery presses the left iliac vein against theВ spine. That added pressure leaves a narrower opening. It can also lead to scars in the vein.

You’re more likely to get May-Thurner syndrome if you:

  • Are female
  • Have scoliosis
  • Just had a baby
  • Have had more than one child
  • Take oral birth control
  • Are dehydrated
  • Have a condition that causes your blood to clot too much

Symptoms

You likely won’t even know you have it unless you get a DVT. You might get pain or swelling in your leg, but usually, there aren’t any warning signs.

With a DVT, your left leg may show symptoms such as:

  • Changes inВ skinВ color, with it looking more red or purple than normal
  • Heaviness, tenderness, or throbbing
  • Pain that feels like aВ crampВ orВ charley horse
  • Skin that’s warm to the touch
  • Swelling
  • Veins that look larger than usual

If the DVT breaks off and forms a clot in your lungs, you may notice:

  • Chest painВ that’s worse when youВ breatheВ in
  • Coughing up blood
  • A heartbeat that’s faster than normal
  • Passing out
  • Shortness of breath or other problems breathing

Call 911 if you have any of these symptoms.

Diagnosis

Your doctor will first do aВ physical examВ to look for symptoms of a DVT. From there, you may need lab tests or imaging tests, such as:

  • CT orВ MRI
  • Ultrasound
  • Venogram, a type of X-ray that uses a special dye to show the veins in your leg

Treatment

There are two goals: to treat any clots you already have and to keep new ones from forming.

Your doctor may talk to you about several options, including:

Angioplasty and a stent. This is a common treatment for May-Thurner syndrome. First, your doctor uses a small balloon to expand the left iliac vein. Then, you get a device called a stent. It’s a tiny cylinder, made of metal mesh, that keeps the vein open wide so blood can flow normally. The doctor may also use intravascular ultrasound to help put the stent in place.

Blood thinners. These drugs are often used toВ treat DVT. They can prevent new clots and keep ones you already have from getting bigger. Your doctor may call these medicinesВ anticoagulants.

Bypass surgery. Your doctor builds a new path for blood to flow. You can think of it as a detour around the part of the left iliac vein that’s getting squeezed.

Clot busters.В Doctors may use these to treat more serious clots. You might also hear this treatment called thrombolytic therapy. Your doctor uses a thin tube, called a catheter, to send theВ medicationВ right to the site of the clot. The drug breaks it down in anywhere from a few hours to a few days.

Compression stockings. If your symptoms are mild and the doctor doesn’t think you need more treatment, they may suggest you wear these tight stockings that go from toes to knee. They put pressure on your lower legs that eases swelling and improves blood flow. You may have heard them called support hose.

Surgery to move the right iliac artery. This operation shifts the position of the artery so it sits behind the left iliac vein and no longer presses on it.

Surgical thrombectomy. This procedure to remove the clot is reserved for very large clots or those that are causing severe tissue damage.

Tissue sling. With this surgery, you get extra tissue put in that acts as a cushion between the two blood vessels.

Vena cava filter. You might get this if you can’t take blood thinners or if they don’t work well for you. Your doctor places a filter in your vena cava, a large vein in your belly. Although the filter won’t prevent clots from forming, it will catch them before they end up in your lungs.

Complications

DVT is the primary complication of May-Thurner syndrome, but you could also get:

Pulmonary embolism: If the clot or part of the clot breaks loose, it could move to your lungs. Once there it might block an artery. This condition can be life-threatening.

Show Sources

National Blood Clot Alliance: “May-Thurner Syndrome Resources.”

Mayo Clinic: “Thrombophlebitis.”

UpToDate: “May-Thurner syndrome.”

University of Iowa Hospitals & Clinics: “May-Thurner Syndrome.”

Cleveland Clinic: “May-Thurner Syndrome: Treatment Options.”

Saint Luke’s: “What is surgical thrombectomy?”

NHS: “How long should I wear compression stockings to improve my circulation?”

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How to treat turner syndromeGrowth Hormone treatment, [somatropin (rDNA origin) injection, often referred to as GH, is recommended for girls with Turner Syndrome and requires daily injections of growth hormone once the child drops below the 5th percentile in height. Injections are given subcutaneously at night in attempt to mimic the natural secretion of growth hormone, which peaks at night. Most pediatric endocrinologists monitor growth and adjust dose every 3–6 months. Treatment is usually extended if the child is growing. A child usually takes growth hormone until their growth velocity has decreased to 2 cm (

.79 inches) over the previous year with a bone age of at least 13-14 years. Bone age does not necessarily match actual age, therefore it is possible to take growth hormone beyond 14 years of age.

Growth treatment is expensive, costing as much as $10,000 to $60,000 a year in the United States. Treatment for Turner Syndrome is considered medically necessary and is covered by most insurance companies. Pharmaceutical companies provide support to those in need. If you are uninsured or unable to afford treatment, a treating physician should provide necessary support to appeal for insurance coverage; clinical guidelines for TS indicate that GH is a critical treatment for TS. Assistance is available for those who may need it.

Short stature affects at least 95% of all individuals with Turner Syndrome and is the most consistent and readily recognizable clinical feature of TS. Short stature in TS is characterized by mild intrauterine growth restriction, slow growth during infancy, delayed onset of the childhood component of growth, and growth failure during childhood and adolescence without a pubertal growth spurt. This growth failure leads to a reduced final height, which is approximately 20 cm (

7.9 inches) below the female average of the corresponding ethnic group. The average height left untreated is 4’7″.

Final adult height for patients after growth treatment are greater in patients who:

  • Initiate treatment at a young age
  • Are relatively tall at start of treatment
  • Are short in relation to their parents
  • Are treated with high doses of GH
  • Other factors affecting final adult height include:
    • Familial genetics
    • Ethnicity
    • Nutrition
    • General health
    • Specific genetic components

Growth hormone treatment is effective in most girls when started early in life. Growth hormone initiated around 4–6 years of age, and preferably before 12–13 years when:

  • The child already has evidence of growth failure (e.g., below 50th percentile height velocity (HV) observed over 6 months in the absence of other treatable cause of poor growth
  • The child is already short or has a strong likelihood of short stature e.g., short parents and short predicted adult height or already pubertal at the time of diagnosis.

The Toddler Study indicates an even more notable growth when treatment is initiated very early in life during the toddler years.

Treatment Adherence

Growth treatment consists of daily injections given subcutaneously at night in attempt to mimic the natural secretion of growth hormone. If you were to miss an injection, skip the dose you missed and take the next dose the following day as prescribed. Do not take any extra doses because you have missed one. Furthermore, it is still necessary to take the injections if you are traveling or away from home. Failure to adhere to treatment as prescribed leads to significant reduction of growth hormone treatment efficacy. Always seek the advise of your doctor, case manager, or nurse hotline to answer specific questions or concerns.

Side Effects/Risks

Although rare in children, there is the possibility of salt and fluid retention which may lead to the swelling of lower limbs, hands, or wrists (especially during first days/weeks of treatment). Slipped Capital Femoral Epiphyses (SCFE) may also occur. This is the displacement of the growth plate at the femur, which can possibly lead to hip or knee pain. Another side effect to growth treatment is headaches, which may be caused by an increase in the pressure on the brain. If headaches do occur, the medication can be stopped for a short time, the headaches should subside, and the medication can then be restarted.

While taking growth treatment, some changes that may occur in your child include: increased weight, increased muscle and bone mass, increased strength, increased balance and coordination, increased metabolism and appetite, and improvement in mood.

How should I discuss this with my child/family?

When talking about the treatment with your child, always remain calm and patient; yet firm. Explain to your child that this is medicine that must be given to help them grow. For any questions, concerns, or comments you may have, talk with your doctor or case manager. If you can’t do the injections alone, having a support system (friends, neighbors, etc.) is helpful. Ensuring your child has a nighttime routine can also help to make things run more smoothly. To get your family involved in this new process, have them measure their own heights every so often with your child that is taking growth hormone so she can realize she is growing just like your family.

Most treatment for Turner syndrome occurs in childhood and adolescent years. Patients will have a pediatric endocrinologist who cares for them. Treatments the endocrinologist would recommend are growth hormone injections, estrogen replacement therapy, surgery when necessary, having an Ear, Nose and Throat specialist when hearing loss is a possibility, and regular health visits.

Treatment for short stature

Growth hormone injections are important for patients with Turner syndrome, because without these injections girls will not be able to grow to their full potential.

Without the growth hormone treatment, women’s maximum height potential is 143cm or about 4.7ft. Picture- (lakecharlesobgyn.com).

Treatment for lack of Estrogen

Estrogen replacement therapy is usually started at a time of normal puberty, around 12 years old to start breast development. Estrogen and progesterone are given a little later to begin a monthly ‘period’, which is necessary to keep the womb healthy. Women with Turner syndrome are sterile; therefore they do not produce their own eggs. However, it is still important for them to maintain a healthy womb because they can use in-vitro fertilization using donated eggs and possibly conceive children. Estrogen is also given to prevent osteoporosis.

Treatment for heart disorder

Baby girls can be born with a bicuspid valve and cortication of the aorta and the only way to treat these heart defects is surgery.

Treatment for Ear Infections

Girls who have Turner syndrome are more likely to get middle ear infections.

An ear infection is defined as inflammation of the middle ear characterized by the accumulation of fluid. An estimated 90% of patients have middle ear infections or conductive hearing loss. There is a 9% incidence for sensorineural hearing loss at a young age, increasing to 25% by age 45.

Sensorineural hearing loss occurs when there is damage to the inner ear (cochlea), or to the nerve pathways from the inner ear to the brain.

The ear (scienceblogs.com).

Children with Turner syndrome are more likely to have middle ear effusion and/or otitis media (ear infections) because of the abnormal relationship between the Eustachian tube and the middle ear. The Eustachian tube, is shown below, it tube that runs between the inside of the ear and the throat. Its job is to make sure the pressure is the same on either side of the eardrum.

This abnormal relationship causes an abnormal anatomy at the base of the cranium. When girls turn seven or eight years old they need to have increased surveillance for middle ear effusion.

As a result of ear infections, conductive hearing loss is common. Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, eardrum or middle ear. If a child has conductive hearing loss, they should be monitored and have it managed aggressively because the impact of hearing loss is significant on speech and language development.

When there is a persistent ear infection there is a risk for the formation of cholesteatoma (a type of skin cyst in the middle ear).

This is a diagram of where cholestoatoma is located in the ear (marshfieldclinic.org, 2012).

How to treat turner syndrome

What choleseatoma looks like when observed with an otoscope (drugline.org, 2012).

A type of hearing loss that can also develop is Progressive sensorineural hearing loss (SNHL). This type of hearing loss causes someone not to be able to hear frequencies of 1.5 to 2 KHz and/or 8 KHz as early as age 6. As mentioned above if children has hearing loss or frequent ear infections they can have trouble learning how to develop language and speech. If this progresses and is severe enough, amplification may be recommended. If hearing loss is identified then the girls should see their Ear, Nose and Throat (ENT) specialist to have annual audiological evaluations and follow-up and possibly receive a hearing aid.

Regular health checks are extremely important. There are special clinics in certain areas that specialize in the care of girls and women with Turner syndrome. Early preventive care and treatment is exceptionally important.

Women with Turners are able to live a healthy happy life with these types of treatments and support from family and friends.

Turner syndrome is a rare condition that occurs in females as the result of an abnormality in one of the X chromosomes. Symptoms of the disorder generally develop by the age of five and can range from mild to severe. The most common symptoms include being shorter in height than girls of the same age, vision and hearing problems, kidney issues, infertility, and heart defects. Turner syndrome is a genetic disease that cannot be cured, though symptoms can be managed, and many individuals with the syndrome have a life expectancy very close to that of the general population. Quality of life and life expectancy can be improved with regular monitoring checkups and advanced treatment options.The treatments outlined below may be useful for patients.

Estrogen Replacement Therapy

How to treat turner syndromeDreamstime

In the majority of cases, Turner syndrome causes delayed or absent puberty. Estrogen replacement therapy is needed to induce puberty and achieve healthy sexual functioning throughout life. Most patients with this syndrome begin estrogen replacement at the end of their childhood growth phase, generally between eleven and fourteen years old. Estrogen is taken from this point until ages forty-five to fifty-five, the average age range of menopause. In addition to inducing menstruation, estrogen replacement allows girls to have healthy breast development. This is important as many girls with this disease have underdeveloped breasts. Patients most commonly take estrogen replacement therapy as a pill or as a patch placed on the skin.

Get to know the next option in treating Turner syndrome now.

Lenore S. Levine; Treatment of Turner’s Syndrome With Estrogen. Pediatrics December 1978; 62 (6): 1178–1183. 10.1542/peds.62.6.1178

Download citation file:

In 1938, Turner 1 described the syndrome of short stature and sexual infantilism. Since that report, the association of streak gonads and a variety of other developmental defects has become well recognized. 2(p286) Psychosexually, girls with Turner’s syndrome are said to be “the epitome of femininity and markedly maternal in their play and child care interests.” 3 Administration of hormones to induce breast development and menstrual cycles maintains and promotes their feminine identity 4 and is recommended for the psychological well-being of the girl with Turner’s syndrome. 5

Continuous estrogen therapy to induce breast development has been recommended for initial treatment, followed by cyclical estrogen administration to permit periodic shedding of the endometrium and bleeding. 5-7 The addition of a progestational drug has been recommended if the response to estrogen alone was unsatisfactory. 5,7 More recently, however, the use of cyclic estrogen-progesterone regimens has been considered safer. 8-10

Although there have been a number of reports on the effects of estrogens on bone age and growth, 11-14 there have been few systematic studies of the hormonal effects of replacement therapy in Turner’s syndrome. 15-18 Rosenfield et al. 17 measured the changes in circulating levels of estradiol, estrone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH), sex hormone-binding globulin capacity, thyroxine-binding globulin capacity, and vaginal cytological pattern in five girls with Turner’s syndrome and one girl with multiple endocrine deficiency syndrome following a single intramuscular injection of estradiol cypionate, 1.5 to 2.0 mg (Fig. 1). Plasma estradiol levels reached a peak three to seven days after the injection and fell steadily thereafter, reaching control levels at 18 to 20 days.

Turner syndrome is a rare condition that occurs in females as the result of an abnormality in one of the X chromosomes. Symptoms of the disorder generally develop by the age of five and can range from mild to severe. The most common symptoms include being shorter in height than girls of the same age, vision and hearing problems, kidney issues, infertility, and heart defects. Turner syndrome is a genetic disease that cannot be cured, though symptoms can be managed, and many individuals with the syndrome have a life expectancy very close to that of the general population. Quality of life and life expectancy can be improved with regular monitoring checkups and advanced treatment options.The treatments outlined below may be useful for patients.

Estrogen Replacement Therapy

How to treat turner syndrome

In the majority of cases, Turner syndrome causes delayed or absent puberty. Estrogen replacement therapy is needed to induce puberty and achieve healthy sexual functioning throughout life. Most patients with this syndrome begin estrogen replacement at the end of their childhood growth phase, generally between eleven and fourteen years old. Estrogen is taken from this point until ages forty-five to fifty-five, the average age range of menopause. In addition to inducing menstruation, estrogen replacement allows girls to have healthy breast development. This is important as many girls with this disease have underdeveloped breasts. Patients most commonly take estrogen replacement therapy as a pill or as a patch placed on the skin.

Get to know the next option in treating Turner syndrome now.

Cardiovascular Surgery

How to treat turner syndrome

Heart problems are a major concern in this condition. Studies have shown between twenty-five to fifty percent of patients with the condition have congenital heart defects. These most often include a narrowing of the aorta, problems with the aortic arch, or the presence of a bicuspid aortic valve. Turner’s patients should be seen by a cardiologist and monitored with echo-cardiogram or cardiac MRI studies, and cardiovascular surgery may be required to address particular heart concerns. Patients who do not have congenital heart defects are still at an elevated risk for high blood pressure, diabetes, and heart disease. Serious cardiac complications such as aortic dissection can occur during pregnancy, and they require emergency cardiovascular surgery.

Continue reading to learn about the next method involved in treating Turner syndrome.

Blood Pressure Medication

How to treat turner syndrome

High blood pressure (hypertension) is a major risk factor in the development of cardiovascular disease. Patients with this syndrome already face an increased risk of cardiovascular events, and it is therefore particularly important for these patients to be screened for and treated for high blood pressure. Studies of patients with this condition have shown high blood pressure commonly begins in childhood. Blood pressure measurements should be taken regularly at pediatric office visits, and the doctor may suggest office measurements be compared with measurements taken at home or through a twenty-four-hour ambulatory monitoring unit. High blood pressure is diagnosed if three readings taken on different days are all high.

Estrogen therapy can increase blood pressure readings, so patients undergoing this treatment should be especially vigilant about monitoring their blood pressure and attending regular screenings. Dietary changes and weight loss may help control blood pressure, but blood pressure medications are needed in many cases. Medications such as diuretics, beta blockers, vasodilators, and ACE inhibitors can all be used to treat high blood pressure. The side effects of these blood pressure medications are generally mild, and the dosage or medication type can be altered by the doctor if needed.

Discover more ways in which Turner syndrome is treated now.

Hearing Specialist Treatment

How to treat turner syndrome

Individuals affected by Turner’s syndrome experience more ear infections and have a higher risk of hearing loss than the general population. In particular, as many as eighty-eight percent of these patients commonly experience chronic infections of the middle ear (otitis media) during childhood and early adolescence. While these infections can typically be treated with antibiotics, sometimes surgery to insert tubes into the ears for fluid drainage is needed. If left untreated, chronic ear infections can result in hearing loss. In adulthood, up to ninety percent of patients with the condition may experience some degree of sensorineural hearing loss. This type of hearing loss usually gets worse with age and is treated with hearing aids or cochlear implants. Experts recommend patients have their hearing evaluated by a specialist at least once every five years, even if they do not show any symptoms of ear infections or hearing loss. Any ear infections that may develop should be treated aggressively to prevent hearing loss. Available hearing specialist treatment includes custom hearing aids and advanced ear surgery.

Understand more on how Turner syndrome can be treated now.

Mental Health Treatment

How to treat turner syndrome

Turner’s patients may face many challenges throughout their lifespan that benefit from mental health treatment such as group or individual therapy. Some studies have indicated these individuals may have a higher than average risk of attention deficit disorder, a condition that may benefit from intervention by a behavioral health specialist. Mental health treatment for girls with Turner syndrome can help them cope with the anxiety that may come with certain aspects of the condition, such as infertility and heart problems. Speech therapists and other behavioral and occupational health specialists can help support patients in dealing with any speech or learning concerns that may arise.

Mental health services may also be appropriate for families of patients with the disease, and a variety of support groups for various ages are available. Mental health support can be received in individual, family, or group settings, depending on patient preference. Cognitive behavioral therapy and other forms of counseling can help patients and caregivers learn effective coping strategies. If needed, medication for anxiety, depression, and attention deficit disorder can be used to provide patients with an additional source of support in facing challenges. While mental health screening may not always be conducted, patients are encouraged to visit a mental health professional if they have concerns or feel in need of support.

How to treat turner syndrome

Turner syndrome or TS is one of disease for which scientists still don’t know the exact cause. They do, however, know that the problem lies in the chromosomes and affects 1 in every 2.500 girls. Girls diagnosed with Turner syndrome are born with only one X chromosome instead of two (XX) or, in some cases, they miss a part of one X chromosome, while the other chromosome is normal.

Symptoms and problems linked to Turner syndrome mainly depend on the number of cells in the body affected with changes to the X chromosome.Turner Syndrome Symptoms

Girls born with this syndrome are usually short in height and without any treatment grow up to 1.4m (or some 4 feet 7 inches). This problem is treatable if the girl is still growing, so many girls can grow taller. There are several physical features, commonly seen in TS, such as: drooping of the eyelids, webbed neck, low hairline at the back, abnormally shaped and positioned ears, abnormality of the bones in the hands and elbows, as well as edemas in the hands and feet.

Turner syndrome also affects the development of ovaries and ability to have children. These girls must be treated in order to get menstruation and experience changes associated with puberty. Regardless the treatment girls with TS are very commonly unable to have children, either completely or at least on their own, without any help.

Girls suffering from TS may also suffer from: hypertension, overweight, diabetes, hearing problems and also kidney, heart and thyroid problems as well. Learning difficulties are also frequently present and math, visual organization and map reading may be especially problematic for these patients.

How to Prevent and Treat TS

So far, there is no known way to prevent this syndrome, due to the cause of the problem (chromosomal abnormality). Treatment options are focused on correction of specific problems these patients have, especially growth, puberty and fertility.

TS patients may get growth hormone treatment to improve her growth and influence her height as an adult. Early treatment is found to give the best results. Estrogen replacement therapy enables development of physical changes and puberty, especially development of breasts and menstruation in these girls. Most girls with Turner syndrome get their estrogen replacement treatment once they reach 12 or 13 years.

Women with TS can’t become pregnant at all or without some help and that’s where in vitro fertilization comes in the picture. To create an embryo, doctors use donor’s egg and place it into the uterus of a woman suffering from Turner’s syndrome. Baby can be born on time, through normal birth, but TS woman need some proper supportive care.

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Medical Care

Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. [14]

In childhood, growth hormone therapy is standard to prevent short stature as an adult. [15, 16, 17] The results of a double-blind, placebo-controlled trial show that the combination of growth hormone and ultra-low-dose estrogen in childhood may improve growth in patients with Turner syndrome. [38] The ideal age for initiating treatment has not been established. Taller adult heights occur with the longest treatment durations before the start of puberty.

Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. Estrogen is usually started at age 12-15 years. Treatment can be started with continuous low-dose estrogens at 12 years, or as early as 5 years . [30] These can be cycled in a 3-weeks on, 1-week off regimen after 6-18 months; progestin can be added later. Some authors believe that conjugated estrogens are contraindicated in pediatric patients. [10] Transdermal estrogens are associated with physiologic estrogen levels [19] , and may be preferred treatment, if tolerated. [10]

Growth hormone may have long-term favorable effects on lipids, even after it is discontinued. [18]

Androgen replacement therapy is not the standard of care [10] , but may have favorable effects. [20]

Affiliations

  • 1 Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. [email protected]
  • 2 Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. [email protected]
  • 3 Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • 4 Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • 5 Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
  • 6 Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark.
  • PMID: 31213699
  • DOI: 10.1038/s41574-019-0224-4
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Authors

Affiliations

  • 1 Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. [email protected]
  • 2 Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. [email protected]
  • 3 Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • 4 Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • 5 Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
  • 6 Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark.
  • PMID: 31213699
  • DOI: 10.1038/s41574-019-0224-4

Abstract

Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporosis and autoimmune disorders. Morbidity and mortality are increased in women with Turner syndrome compared with the general population and the involvement of multiple organs through all stages of life necessitates a multidisciplinary approach to care. Despite an often conspicuous phenotype, the diagnostic delay can be substantial and the average age at diagnosis is around 15 years of age. However, numerous important clinical advances have been achieved, covering all specialty fields involved in the care of girls and women with Turner syndrome. Here, we present an updated Review of Turner syndrome, covering advances in genetic and genomic mechanisms of disease, associated disorders and multidisciplinary approaches to patient management, including growth hormone therapy and hormone replacement therapy.

Description

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.

About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck ), a low hairline at the back of the neck , puffiness or swelling (lymphedema ) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta ) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.

Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.

Frequency

This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).

Causes

Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes . People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female’s cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth.

About half of individuals with Turner syndrome have monosomy X , which means each cell in the individual’s body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Women with Turner syndrome caused by X chromosome mosaicism are said to have mosaic Turner syndrome.

Researchers have not determined which genes on the X chromosome are associated with most of the features of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

Learn more about the gene and chromosome associated with Turner syndrome

  • SHOX
  • x chromosome

Inheritance

Most cases of Turner syndrome are not inherited. When this condition results from monosomy X , the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person’s parent. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have a single X chromosome in each cell and will be missing the other sex chromosome.

Mosaic Turner syndrome is also not inherited. In an affected individual, it occurs as a random event during cell division in early fetal development. As a result, some of an affected person’s cells have the usual two sex chromosomes, and other cells have only one copy of the X chromosome. Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism.

Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next.

Affiliation

  • 1 Medical Department M (Endocrinology and Diabetes) and Medcal Research Laboratories, Aarhus Kommunehospital, Aarhus University Hospital, Aarhus, Denmark. [email protected]
  • PMID: 11825306
  • DOI: 10.1517/14656566.2.10.1633
  • Search in PubMed
  • Search in NLM Catalog
  • Add to Search

Author

Affiliation

  • 1 Medical Department M (Endocrinology and Diabetes) and Medcal Research Laboratories, Aarhus Kommunehospital, Aarhus University Hospital, Aarhus, Denmark. [email protected]
  • PMID: 11825306
  • DOI: 10.1517/14656566.2.10.1633

Abstract

Several issues have to be considered when taking care of girls and women with Turner syndrome. During childhood, short stature is the primary concern and treatment with growth hormone (GH) is now widely used, often in conjunction with the androgen, oxandrolone. Recent studies indicate that doses used previously in the treatment of short stature have been too small. Induction of puberty should be performed at an appropriate age with reference to the peers of the patient. In adulthood, female sex hormone substitution should be offered to possibly prevent the increased morbidity seen in Turner syndrome, which consists of increased risk of fractures and osteoporosis, a clustering of diseases like ischaemic heart disease, hypertension, stroke and Type 2 diabetes, the latter entities being involved in the insulin resistance syndrome. Furthermore, hypothyreosis are often seen and the risk of Type 1 diabetes may also be increased. Congenital malformations of the heart are frequently seen in Turner syndrome, possibly increasing the risk of dissecting aorta aneurism. Liver enzymes are often elevated in Turner syndrome and there may be an increased risk of cirrhosis of the liver. Mortality does seem to be increased in Turner syndrome and women with the ‘pure’ 45,X karyotype do seem to be most severely affected. In the clinical practice of Turner syndrome, a careful monitoring of glucose and bone metabolism, weight, thyroid function and blood pressure should be performed. A cardiovascular risk profile should be determined and the patient informed concerning risks and benefits from sex hormone replacement therapy. Based on the available literature, sex hormone replacement therapy is highly recommended, although at present there are no longitudinal data documenting the long-term positive effect of sex steroid substitution. However, hypogonadism is expected to explain at least part of the decreased lifespan found in Turner syndrome. Since general physicians encounter Turner patients infrequently, it is recommended that the care and treatment of Turner syndrome is centralised.

Turner syndrome is a chromosomal disorder found only in women. In this syndrome, the sex chromosome, i.e., the X chromosome, is missing or partially missing. This syndrome can cause too many development issues like short height or not proper body development and medical issues like heart defects or ovaries development failure.

Turner syndrome can be diagnosed at any phase in life from before birth to young adult years. A woman with this syndrome can carry on with normal independent life if they do things as per their gynecologists suggest.

Symptoms

Turner syndrome can show different types of symptoms in different girls. Some might end up showing no sign of having turner syndrome and in some women, turner syndrome can lead to improper body development or medical issues like a heart condition. Different phases in like show different signs and symptoms which can help a parent realize they need to consult a doctor:

– Before birth

Before birth, turner syndrome can be detected via prenatal cell-free DNA screening. This screening will detect any chromosomal abnormalities or any other medical abnormalities in the developing baby, like heart and kidney abnormalities or abnormal fluid collection on any part of the body.

– During infancy

After birth, there are several signs that a parent can emphasize on like low-set ears, broad chest, wide neck, fingernails or toenails that are narrow or turned upwards, swollen hands or feet, slow growth, cardiac defects, short height, short finger or toes, and smaller low jaw. These are the signs that need attention and if you find any of these in your girl, you need to consult a doctor immediately and go through all the procedures.

– During teens or adulthood

The most common symptom you will find in your girl during her teens or adulthood of turner syndrome is ovarian scarcity because of ovarian incapability. This can lead to multiple issues like short stature, no growth spurts, failure to face sexual changes during puberty, premature end of the menstrual cycle, and inability to conceive a child without fertility treatment.

Causes of Turner syndrome

The primary cause of Turner syndrome is when one copy of the X chromosome (sex chromosome) ends up missing or partially missing or being altered. This situation can arise because of a series of reasons, some of them are:

– Mosaicism

During fetal development, sometimes, an error occurs in cell division, which results in some cells in the body having two complete copies of X chromosomes and others having only one.

– Monosomy

Because of some sort of error in the father’s sperm or mother’s egg, there can be a complete absence of an X chromosome in the daughter. This will cause having just one X chromosome in every cell in the body.

– Y chromosome material

Sometimes, one cell has a copy of the X chromosome and the other cell ends up having a copy of the X chromosome and some Y material, which increases the risk of developing a type of cancer called gonadoblastoma. Biologically, this individual develops as a female-only.

– X chromosome abnormalities

Cells with a complete and altered copy of chromosomes can lead to Turner syndrome. There are chances that because of some error in the sperm or egg, abnormality in one of the X chromosomes can occur and can lead to having one complete and one altered copy.

This error can also occur during fetal development while cell division takes place in which some cells end up having the abnormal or missing part of one of the X chromosomes.

Treatment

One might get multiple medical problems because of turner syndrome, which includes cardiovascular problems, bone problems, kidney defects, hearing problems, autoimmune disorders, metabolic syndrome, mental health challenges, and vision problems.

This medical combination can happen in any permutation and combination and therefore, it is extremely important that Turner syndrome is given proper medical attention in the stipulated time. There are various treatments available for turner syndrome:

– Human growth hormone therapy

Human growth hormone therapy (HGH) received US Foods and Drug Administration approval in 1996 and is considered an effective and safe way to treat turner syndrome.

These injections are used to increase height among the woman by several inches. There are various benefits of HGH therapy; it can treat delayed sexual development, help with the overall height and weight of the person. It can also help in muscle building and stamina increase. It can also help with recovery from an injury.

HGH therapy should only be carried out under professional guidance. It should be only consumed if prescribed by the doctor and stick with the doses prescribed. If it is taken without professional guidance it can cause real harm to the body.

– Cyclic progestins

Cyclic progestins are the hormones that are injected if the blood test shows deficiency at 11-12. These hormones are used to induce the menstrual cycle. One cannot consume these hormones without the doctor’s consultation because the dosage of this hormone is low initially and then is escalated.

– Estrogen therapy

Estrogen is a female hormone used to develop breasts and begin menstruation among women. This hormone helps in getting the typical size for the uterus and also improves the brain’s typical size, heart function, skeletal function, and liver health. This is a treatment that is used widely in TS for sexual development among women.

Conclusion

Turner syndrome is a common sex chromosomal disorder affecting girls and women but can also be very challenging at the same time. A girl or woman affected by TS can face issues like low self-esteem, which can lead to anxiety and depression. This feeling occurs because of their physical concerns, infertility concerns, and health problems that come along with TS.

It can lead to mental health issues as well. TS comes with various myths, but women with turner syndrome are usually good and the life expectancy is also good if the diagnosis happens on time. Women with TS can also get pregnant using special fertilization techniques. Hence, Turner syndrome is not a disease or a major issue if taken care of and treated on time.

Turner Syndrome is a chromosomal condition that occurs when one of the two X chromosomes found in females is missing or incomplete. It is a chromosomal condition that only affects females. It is one of the most common chromosomal conditions, occurring in about 1 out of every 2,500 live female births.

What causes it?

Turner Syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in a woman. There are no known reasons for the complete or partial absence of one of the X chromosomes, and the condition appears to occur randomly.

How is it diagnosed?

Turner Syndrome is diagnosed using a blood test known as a karyotype. The karyotype blood test analyzes the chromosomal composition of the individual and determines whether the X chromosome is absent.

What are the symptoms?

A shorter stature and lack of ovarian development are the most common characteristics of symptoms.
The following physical characteristics may also be present:

  • A webbed neck – a variation of skin folds on the neck
  • Arms that are slightly turned out at the elbow
  • A low hairline in the rear of the head

Are there any health concerns for someone with Turner Syndrome?

A woman with Turner Syndrome who receives proper medical care should be able to lead a full and productive life — but will be more susceptible to heart problems, kidney problems, thyroid problems, or fertility problems.

What are the treatment options?

This condition cannot be cured; however, there are treatments that may reduce the symptoms. The two most common characteristics associated with the condition are short stature and lack of ovarian development, both of which can be treated.

The Food and Drug Administration has approved the use of growth hormones for the treatment. The growth hormone enhances growth velocity and potentially the final adult height. It is administered alone or with a low dose of androgen.
Ovaries produce estrogen, which is important for developing and maintaining good tissue and bone structure. Estrogen replacement therapy helps with this development, along with promoting the development of secondary sexual characteristics.

There are also reproductive technologies available that may enable a woman with Turner syndrome to become pregnant. It is possible for a woman with Turner syndrome to carry an embryo provided by a donor egg.

Want to Know More?

  • The Turner Syndrome Society of the United States: 1-800-365-9944
  • Tips for Preventing Birth Defects
  • Genetic Counseling

Compiled using information from the following sources:

1. Turner Syndrome Society of the United States

Published on Nov 15, 2018

Turner Syndrome Program

Carlin is a verbally gifted child, with a special love of science and a talent for drawing. Now 12, she was diagnosed with Turner syndrome (TS) when she was 3. Through comprehensive care and a network of support and training, she is leading a happy, healthy life.

How to treat turner syndromeCarlin was a small baby, under 6 pounds at birth, and she stayed small through her first years, dropping farther and farther down the growth chart. At 2, she was still wearing 6- to 9-month baby clothes.

Turner syndrome diagnosis

When Carlin was 3, her pediatrician suggested her mother, Lorianna, take her to a gastroenterology (GI) specialist to see if there was anything wrong with her ability to absorb nutrients from food. The GI specialist examined her and took blood samples for testing. She found no GI issues, but from her size and from irregularities in her dentition (arrangement of teeth), she suspected she might have Turner syndrome.

Turner syndrome is a chromosomal disorder in girls that is associated with short stature. Turner syndrome is also associated with other health problems, including heart and kidney abnormalities, as well as hearing and learning problems.

When the results of the blood tests came back, they confirmed Carlin had Turner syndrome. Her pediatrician referred the family to another medical center for further testing. Ultrasound imaging showed her heart and kidneys were fine.

“It was all new to me,” remembers Lorianna. “I focused on learning more about Turner syndrome and how I could help her.” She brought Carlin to an endocrinologist, who explained that she could be treated with growth hormone therapy. But she held off, concerned about how else the hormones might affect her.

A second opinion at CHOP

More About Turner Syndrome

“As I told friends and family about it,” says Lorianna, “people kept telling me I should get a second opinion at CHOP” (Children’s Hospital of Philadelphia). So, she made an appointment with CHOP’s Turner Syndrome Program when Carlin was 5.

In their first appointment, they met with Vaneeta Bamba, MD, a pediatric endocrinologist who is Director of the Turner Syndrome Program, and with Denise Gruccio, DNP, CRNP, PNP-BC, a nurse practitioner in the Program.

“It was a long visit,” says Lorianna. “They took the time to talk to Carlin and get to know her. I expressed my concerns with growth hormone therapy and they listened. Denise was very clear about which side effects were of more concern than others and why, which put my mind at ease. Instead of dismissing my hesitation with the hormone therapy, she said something I will always remember. She told me, ‘Carlin’s personality will get her so much further in life than a few more inches.’ I went home and immediately started getting all of Carlin’s records transferred to CHOP.”

Responding well to treatment

Over the next year, Lorianna learned more and more about growth hormone therapy, enough so that she started Carlin on the treatment without reservations. She has responded well. Before starting the treatment, she was well below the bottom of the standard growth chart, and in the 20 to 30 percent range on the Turner syndrome growth chart. Now she is in the 95 th percentile on the Turner syndrome growth chart and in the 5 th percentile on the standard growth chart.

In addition to treatment with growth hormone therapy, Carlin has been treated for chronic ear infections and hearing problems by Brian Dunham, MD, an attending surgeon in the Division of Otolaryngology (ENT) at CHOP. She’s on her second set of ear tubes, and had her adenoids removed. These problems are also related to Turner syndrome.

A smart, articulate, and funny child

Carlin is 12 now. She’s a smart, articulate and funny child, with special passions for science and drawing. She reads several grade levels above her age and writes and illustrates her own stories. She sometimes struggles with social cues, an effect of Turner syndrome, but has been helped with social skills classes. Nothing holds her back. In fact, she’s very social (“a social butterfly,” says Lorianna).

Carlin comes to CHOP every three months for examination, and she usually gets blood work at those appointments. As she enters adolescence, additional hormone therapy (estrogen) may be required to jump start puberty.

“There’s a very delicate balance in deciding when to introduce estrogen. I have complete and total faith in Denise in managing Carlin’s treatment,” says Lorianna. “She is incredibly thorough and incredibly caring.”

“ There is no doubt in my mind that Carlin is in the right place. ”

Update: February 2020

How to treat turner syndromeCarlin is preparing to start high school next year and has been growing her circle of friends as she matures. She is working with an in-home therapist once a week, who helps her break tasks down into smaller pieces to manage emotions, understand boundaries and control impulses. A neuropsychological evaluation from CHOP provided her school with a report on how Carlin may best learn. Carlin’s amazing memory helps her mind absorb information like a sponge and she particularly likes science. She enjoys drawing, writing, and reading in her current 8th grade class.

There are many different chromosomal abnormalities and disorders that have been studied by doctors and scientists around the world for a number of years. Thanks to the advancements in science and technology, there are so many different great things that can be done in order to manage, monitor and even treat the vast majority of them. One of the most common chromosomal abnormalities that seems to be spreading progressively over time and becoming more and more prevalent is Turner Syndrome.

What is Turner Syndrome?

Turner Syndrome is actually used to identify a wide variety of chromosomal conditions and abnormalities usually found in females. The basic cause of this abnormality is that the person with a confirmed diagnosis each has all or at least a substantial part of their sex chromosomes missing. There are quite a few cases in which the chromosome can be missing from certain cells but not from others, which is officially diagnosed as “Turner Mosaicism.”

Common Symptoms of Turner Syndrome

There is a host of different symptoms and conditions that affect people with diagnosed cases of Turner syndrome in one way or the other. For example, most people with Turner syndrome have broad chests, short stature, low hairlines, webbed necks and low-set ears. Young girls that have are diagnosed with this particular abnormality actually experience a considerable level of gonadal dysfunction as well. This can directly lead to amenorrhea (which is the complete absence of a menstrual cycle) as well as sterility.

What is the Life Expectancy and Prognosis?

Cardiovascular malformations are primarily the main targets of licensed healthcare professionals after Turner Syndrome has been confirmed as a diagnosis for a particular patient. This is solely because of the fact that studies have proven that they are the most common reasons why people that have Turner Syndrome die. These malformations have actually been classified as playing an instrumental role in the three-fold increase in the overall mortality of the patient as well as a drastically reduced life expectancy.

In many cases, these malformations can lead to a shorter life expectancy for patients that are diagnosed with Turner syndrome. This is one of the main reasons why licensed healthcare professionals are advised to focus on searching for and examining these malformations as soon as possible. Following the guidance and expert recommendations of your doctor and licensed specialists will allow you to have a much better chance of living a long and happy life while keeping this condition well-managed.

21:55 – 4 May , 2021

What is Turner syndrome?

Symptoms

Diagnosis and treatment

Related centers and departments

Fuentes:

  • turnersyndromefoundation.org
  • mayoclinic.org
  • medlineplus.gov
  • kidshealth.org
  • aeped.es.
  • medigraphic.com
  • Agramonte MA, Martínez M, del Valle CE, et al. Características psicosexuales de mujeres con síndrome de Turner tratadas con hormona de crecimiento. RSS. 2018;24(1):45-55.
  • Jiménez-Madrid JH, Indira-Roncancio T. Síndrome de Turner mixoploide: aberración estructural del cromosoma Y y su correlación con los dermatoglifos. Ginecol Obstet Mex. 2018;86(02):137-145.
  • Domínguez HC, Torres MA, Álvarez HL, et al. Síndrome de Turner. Experiencia con un grupo selecto de población mexicana. Bol Med Hosp Infant Mex. 2013;70(6):467-476.
  • López-Uriarte A, Barboza CC, Gómez PV, et al. Secuencias del cromosoma «Y» en una niña con síndrome de Turner: implicaciones clínicas. Rev Mex Pediatr. 2013;80(6):232-235.

Index

Specialist in Turner syndrome

Of interest on ABC

How to treat turner syndrome

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How to treat turner syndrome

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How to treat turner syndrome

Herpes zoster is a painful, burning rash. It usually appears on one part of the body and can last for several weeks. It can cause long-lasting severe pain and scarring. Bacterial skin infections, weakness, muscle paralysis, hearing or vision loss may occur less frequently. Herpes zoster is caused by the same virus that causes chickenpox. After you have had chickenpox, the virus that caused it remains in the body of nerve cells. Sometimes after many years, the virus becomes active again and causes herpes zoster.

Vaccination is indicated in the following cases:

  • Immunization of patients from 50 years of age for the prevention of herpes zoster and post-herpetic neuralgia (PHN), reduce pain associated with acute or chronic herpes zoster.

Human rabies is a viral disease transmitted by the bite of an infected animal. It is characterized by acute encephalomyelitis (an aggressive response of the immune system that destroys the myelin layer of the nerves and alters its function at the level of the brain or spinal cord).

Vaccination is indicated in the following cases:

  • Prevention of rabies in subjects exposed to risk of contamination. It is recommended for certain international travelers, based on the occurrence of animal rabies in the destination country.

Scheme type:
There are two types.
1. Pre-exposure scheme, consists of three doses of rabies vaccine:

  • First dose, on the chosen date.
  • Second dose 7 days after the first dose.
  • Third dose 28 days after the first dose.

2. Post-exposure scheme, people not vaccinated against rabies, consists of five doses of rabies vaccine.

  • First dose, on the date indicated.
  • Second dose 3 days after the first dose.
  • Third dose 7 days after the first dose.
  • Fourth dose 14 days after the first dose.
  • Fifth dose 28 days after the first dose.

* If the individual continues to be at risk of exposure to the disease, revaccination should be considered.

Turner syndrome, also known as Ullrich-Turner syndrome, Turners syndrome, or Gonadal dysgenesis, is a chromosomal disorder in females. A female develops it when part or all of a second sex chromosome is missing in cells. About 1 in every 2500-3000 girls born with Turner syndrome, so it is important to learn a bit more about it. Keep reading to find out more about signs and symptoms of Turner syndrome as well as some Turner Syndrome photos.

What Are the Signs and Symptoms of Turner Syndrome?

There are certain signs and symptoms associated with Turner syndrome. For instance, unborn females with this syndrome may develop lymphedema, which refers to a condition in which fluid fails to move to the organs and leaks into the surrounding tissue. This results in swelling. Babies with Turner syndrome (TS) may have swollen feet and hands. They may also have a thick neck tissue, lower than normal body weight, and swollen neck.

Several other signs and symptoms become evident after birth or during infancy. Some of them are broad chest, eyelids that droop, low set ears, narrow palate, delayed growth, short hands, and fingernails that turn upward. Females with TS will also have small lower jaw and smaller weight and height at birth. You may also notice their arms turned outwards at the elbows. Web-like neck, widely spaced nipples, and wide neck are some other common signs and symptoms of Turner syndrome that can easily be seen in most Turner Syndrome photos.

How to treat turner syndrome

Later Indicator of Turner Syndrome

It is important to understand that in some rare cases, you do not notice any signs and symptoms of Turner syndrome until later on. Most of the physical symptoms are due to issues like hypothyroidism. Females with TS may also have hypertension, brittle bones, and diabetes. Middle ear infection or Otitis media is very common among girls with TS. This often results in hearing loss in adulthood.

Causes of Turner Syndrome

Experts believe that the abnormality of the X-chromosome takes place spontaneously. It means that if you have a child with Turner syndrome, it does not mean any subsequent children will also have the condition. Turner syndrome occurs at the time of conception when the sperm fertilize the egg. Since TS occurs when there is an issue with the second X chromosome, the condition only affects females.

How to treat turner syndrome

Turner Syndrome Photos in Real Life

Here are some Turner syndrome photos to help understand more about different signs and symptoms usually evident in females with TS.

Low hairline at the back of the head:

How to treat turner syndrome

How to treat turner syndrome

How to treat turner syndrome

Widely spaced nipples:

How to treat turner syndrome

Turner Syndrome Photos of Normal People and Their Life Stories

As mentioned earlier, one in every 2500 females are born with this condition, so it is not that rare. You may in fact know someone with this condition. Here are more Turner syndrome photos of normal people and their stories.

Carly Joy

How to treat turner syndromeCarly Joy is now six years old. She had a difficult birth and was diagnosed with TS at birth. She faced a number of health issues when she was very young, and this made her skip school off and on, but she is now in preschool and loves dancing and gymnastics.

Marissa

How to treat turner syndromeDiagnosed with TS at birth, Marissa is now 12 years old. She had faced so many health issues and paid her first visit to an endocrinologist when she was only two weeks old. She has even faced health issues unrelated to TS, but she never let her health condition take better of her. She loves every minute she spends at specialized camp for Turner Syndrome and wants to be a veterinarian in future.

Laurie

How to treat turner syndromeLaurie was diagnosed with TS when she was only 14. She is now 49 years old and has dealt with several health issues during the last 35 years. There were not many treatment options available back in 1975, so she started on hormone replacement therapy after her diagnosis. This helped her gain about three inches in height – she is now 4 feet and 10 inches tall. At age six, she even had a surgery for coarctation of the aorta. She fought with TS very well until 1994 when it all changed when she was diagnosed with Crohn’s Disease. Later, she developed Immunoglobulin Deficiency/PIDD, which was also related to the Turner Syndrome. Multiple chronic health issues disabled her and kept her from working after 1994. Still, she believes it is possible to live with TS if you get enough support and love from family and friends.

Jane

How to treat turner syndromeBorn on June 9, 1963, Jane died in 2011 when she stopped breathing during a seizure. She was 48 years old at the time of death. She had TS at birth, but no one suspected it until she turned four months old and started experiencing infrequent episodes of choking. After so many visits to hospital, it was found that she had an aortic valve circling her esophagus, which required surgery. She had experienced a neurological issue when she turned 2, and doctor diagnosed her with Cerebral Palsy. She had a chromosomal test when she was 13 and that finally confirmed that she had only 45 chromosomes instead of 46 and was in fact suffering from Turner Syndrome. It was difficult to treat her because she did not receive hormonal therapy after birth. She started getting estrogen when she was already 37 years old. It really helped her, but could not prevent osteoporosis that negatively affected her quality of life, and she finally lost the battle when she was only 48.

Click here to read more about famous people with Turner Syndrome and their life stories.

Turner Syndrome is a genetic abnormality involving the sex chromosome. Achild is born as a girl (since they only have an X chromosome) with Turner Syndrome when the second sex chromosome is damaged or missing. There are two types of Turner Syndrome:

Monosomy X: This is when a girl is completely missing a second sex chromosome (45XO) all together and is born with only 45 chromosomes.

Mosaicism: Is when a girl has most of her cells with only 45 chromosomes (XO) but has some completely normal cells as well. Her normal cells may have either two X chromosomes like a normal female (46XX), or she may have a few normal cells with the male karyotype (46XY). Many times that second chromosome may be damaged.

Features

In addition to growth problems, Turner syndrome prevents the ovaries from developing properly, which affects a girl’s sexual development and the ability to have children. Most girls with Turner syndrome will not go through all of the changes associated with puberty unless they get treatment for the condition. Nearly all girls with Turner syndrome will be infertile.

A number of other health problems occur more often in girls with Turner syndrome, including kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems. Some girls with the condition may have learning difficulties, particularly in math. Many have a hard time with tasks that require skills such as map reading or visual organization.

In addition to short stature and lack of sexual development, some of the other physical features commonly seen in girls with Turner syndrome are:

  • a “webbed” neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
  • a low hairline at the back of the neck
  • drooping of the eyelids
  • differently shaped ears that are set lower on the sides of the head than usual
  • abnormal bone development (especially the bones of the hands and elbows)
  • a larger than usual number of moles on the skin
  • edema (extra fluid) in the hands and feet

Turner syndrome is a genetic condition that only girls develop, one that can affect their growth and development and sometimes their hearts. Working together, our genetic and cardiac specialists offer the support and treatment necessary to restore your child’s heart function and general well-being.

What is turner syndrome?

Usually female children have two complete X chromosomes, which contain some of their DNA. With Turner syndrome, female children are missing a partial or full X chromosome.

These genetic differences can result in many changes to the body, including:

  • Unusually short stature
  • Heart defects
  • Hearing problems
  • Delayed sexual development
  • Cognitive challenges

What causes Turner syndrome?

Turner syndrome is a genetic condition, but it isn’t inherited from a parent. Rather, Turner syndrome occurs because of unexpected chromosome changes that develop in the egg or sperm. Because these changes happen at random, it’s unlikely that parents end up with more than one daughter with Turner syndrome.

Turner syndrome symptoms

Children with Turner syndrome may experience a wide range of symptoms, such as:

  • Obstructed blood flow
  • High blood pressure
  • Thyroid problems
  • Hearing and vision problems
  • Kidney problems
  • Higher levels of cholesterol and other fats called lipids
  • Problems with bone development
  • Learning difficulties

Turner syndrome isn’t always immediately apparent. In some cases, it’s not diagnosed for several years – not until a child’s height is noticeably short for their age. In other cases, the condition is not identified until the typical age for puberty. The changes that usually occur during puberty may be delayed in someone with Turner syndrome.

Turner syndrome diagnosis

We can often diagnose Turner syndrome before birth with a simple blood test. Health care providers may include this test in standard, noninvasive prenatal screening. We may also recommend screening if a prenatal ultrasound shows that your baby has heart or kidney abnormalities or fluid buildup (edema).

We diagnose babies, children and teenagers with genetic testing to examine their chromosomes. We also check for heart conditions with diagnostic tests, including:

  • Blood tests
  • Echocardiogram
  • MRI

Turner syndrome treatment at Advocate Children’s Hospital

Our cardiac geneticists can help your child manage Turner syndrome in many ways, including hormone therapy, to support growth and sexual development. If your child has a congenital heart defect such as coarctation of the aorta, we offer surgery and other treatments to help. Learn more about our cardiovascular genetics program.

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​ Turner syndrome, also known as Turners syndrome or Ullrich-Turner syndrome is a disorder affecting girls which prevents them from maturing. It’s caused by a problem with a girl’s chromosomes, though having a family history of this disease does not put one at increased risk. There is no known action of the mother or father that could cause or prevent this disorder either. It occurs randomly and is not associated with any known risk factor. Turner syndrome may be diagnosed before birth, at birth, during childhood or once the girl reaches adulthood.

There are two types of Turner syndrome:

One in which an X chromosome is completely missing in a girl child

The other in which the X chromosome may be there, but there are abnormalities on it

Turner syndrome is a rare disorder affecting about 1 in every 2,500 girls on average. Girls affected by this disorder are short and have not matured sexually, though the symptoms may vary from one person to the other. Management of Turner syndrome requires a collaborated effort from a variety of healthcare professionals, as well as the patient’s family. With regular monitoring and the right care, girls can lead healthy, active lives.

Symptoms

Since Turner syndrome can be diagnosed at different stages of a girl’s life, the signs and symptoms will depend on your daughter’s age. The most noticeable symptom of a slow or decreasing rate of height growth is usually observed between four to six years of age.

Before birth, the following symptoms may be observed in your daughter’s pre-birth ultrasound:

Fluid collection at the back of the neck

Abnormal heart beat

The following signs and symptoms may be noticed at birth or during infancy:

Lower than normal weight

Small lower jaw

Broad chest with widely spaced nipples

High roof of the mouth

Low hairline at the back of her neck

Increased brown moles on the skin

Short fingers and toes

Arms turning outwards at the elbow

Swelling of hands and feet, especially at birth

Smaller than average birth height

Finger nails that turn upwards

Eyelids that droop

​In older girls, the following are general signs and symptoms:

Short stature, with height shorter than the expected height of a female family member

Learning disability, particularly with spatial concepts and maths

No noticeable growth spurts during childhood

Affected sexual development and no changes associated with puberty without treatment, as Turner syndrome affects the ovaries

Other health problems may appear, such as kidney problems, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems

Early end to menstrual cycles, not due to pregnancy

Poorly developed breasts

Sparse pubic hair

Most women affected by Turner syndrome are not able to have children without fertility treatments. ​

When to see a doctor

Prepare for your initial visit

Tests and diagnosis

Early diagnosis of Turner syndrome is important to help your daughter grow as normally as any other girl her age. The doctor will take a medical history and conduct a physical examination to identify any specific symptoms of this disease.

Before birth, foetal ultrasounds may not give an exact indication of Turner syndrome as many babies with this disorder may look the same as those without it. In fact, it is possible that no clear signs may be noticeable till your daughter reaches the age of puberty.

When Turner syndrome is suspected, a special blood test, called karyotype, is requested for diagnosing Turner syndrome. This is a very accurate test which involves counting the number of chromosomes in white blood cells and observing any abnormalities. Before birth, a sample of the amniotic fluid will be taken for this test.

Other tests may also be requested for further analysing how the body has been affected, such as ECG, ultrasound of the reproductive organs and kidneys, as well as MRI of the chest.

A number of specialists will be involved in the diagnosis and treatment of Turner syndrome, such as hormone disorder specialists, cardiologists, orthopaedist, psychologist dental specialist and clinical geneticist. The Children’s Hospital Service Line at The Aga Khan University Hospital is a multidisciplinary paediatric healthcare unit with various paediatric specialists your child may need to see for Turner syndrome. Our dedicated staff will guide you thoroughly from diagnosis to treatment and management of your daughter’s symptoms.​

Treatment and services

Growth hormone and female hormone (oestrogen) therapy is the usual treatment plan for managing symptoms of a girl with Turner syndrome. Treatment will be specialized to your daughter as per the symptoms exhibited, for instance medications for high blood pressure, heart problems, diabetes and thyroid problems will be given if needed. Though present, chances of having a child are very low for women with Turner syndrome and they may consider in vitro fertilization or adoption.

Regular check-ups and follow up with specialists will help improve the quality of your daughter’s life, as will maintain a healthy weight and exercising.

At The Aga Khan University Hospital, Karachi, our healthcare staff understands the physical and emotional challenges girls face when they have Turner syndrome. Our paediatric specialists at the Children’s Hospital Service Line of The Aga Khan University Hospital will work with your family as a team, and will always be there to help at every step of the way.​

Patient support

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.​

  • Medical Author: Rohini Radhakrishnan, ENT, Head and Neck Surgeon
  • Medical Reviewer: Pallavi Suyog Uttekar, MD

How to treat turner syndrome

Turner syndrome (TS) is a hereditary disorder affecting young girls and women, caused by a missing or partially missing X chromosome.

Each cell in the human body has two sex chromosomes. Women have two X chromosomes and men have one X chromosome and one Y chromosome.

In girls with Turner syndrome, one of the X chromosomes is missing, partially missing, or modified. This defect results in problems during fetal development and other developmental problems after birth.

The genetic alterations of Turner syndrome may be one of the following:

  1. Monosomy: Absence of the X chromosome that occurs due to a defect in the father’s sperm or in the mother’s egg.
  2. Mosaicism: An error may occur in cell division during the early phases of a fetus’ development. This causes a few cells in the body to have two complete X chromosomes, and the other cells to have just one copy.
  3. X chromosome abnormalities: If abnormal or missing pieces of one of the X chromosomes occurs, all cells have one complete and one altered copy of the X chromosome.
  4. Y chromosome material: In some cases, a few cells have one copy of the X chromosome while other cells have a copy of the X chromosome as well as some Y chromosome material.

How to treat turner syndrome

What are the signs and symptoms of Turner syndrome?

The main symptom of Turner syndrome is short stature. All females with TS grow more slowly than others during youth and adolescence, have delayed puberty, and experience no growth spurts.

Another key symptom is irregular sexual development. Most females with TS present with the following:

  • Absence of normal breast development
  • Might not have menstrual periods
  • Have small ovaries that may function for only a few years or not at all
  • Normally do not go through puberty
  • Do not make sex hormones

Females with Turner syndrome regularly have other physical characteristics such as:

  • Broad chest
  • Cubitus valgus (a deformity where the forearm is angled away from the torso when the arm is fully extended)
  • Dental issues
  • Eye issues (drooping eyelids, etc.)
  • Scoliosis (spine bends sideways)

How is Turner syndrome diagnosed?

After considering the symptoms, a blood test is done to analyze the child’s chromosomes. In some cases, a buccal smear or skin sample may also be ordered. The chromosome analysis determines whether there is a missing X chromosome or abnormality in any one of the X chromosomes.

In some cases, a diagnosis is made during fetal development. Prenatal screening tests are conducted to help assess the child’s DNA in the mother’s blood (prenatal cell-free DNA screening or noninvasive prenatal screening), which may help identify the risk of Turner syndrome.

How to treat turner syndrome

QUESTION

What is the treatment for Turner syndrome?

There is no cure for Turner syndrome. However, therapies have been developed that can help improve physical development. Because symptoms and causes vary, treatments are customized to resolve problems particular to each patient.

Typical treatments involve growth hormone treatment and estrogen treatments:

  • Growth hormone (GH) therapies can help normalize height. Usually, the earlier GH treatment is begun, the more effective it is.
  • Sex hormone replacement therapy may help the affected person attain physical development related to adolescence. Estrogen and progesterone replacement treatment may help advance puberty, lead to the improvement secondary sexual attributes, and cause the affected person to start menstruating.

Other treatments are symptomatic and supportive.

By: Ava Bleifuss

What is Turner syndrome?

Turner syndrome is a genetic condition that only affects females. According to the National Organization for Rare Diseases, over 70,000 women and girls in the United States have Turner syndrome, which is about 1 in 2,500 female live births.

How does someone get Turner Syndrome?

Turner Syndrome occurs when one or part of an X chromosome is missing. An X chromosome could be missing from all, or only some, of a female’s cells. In a normal situation, a female child receives one X chromosome from the mother and one X chromosome from the father, meaning she would have all of the genes needed. However, since people with Turner Syndrome are missing part, or all, of the X chromosome, some of their genes are missing. Usually after finding a chromosomal error the body would not allow that cell to continue in the process, but in very rare situations somehow the cell does continue and eventually leads to Turner Syndrome.

What are the symptoms of Turner syndrome?

The majority of babies with this syndrome are lost to miscarriages or still births. However, some babies with Turner Syndrome do survive. For them, the symptoms of Turner Syndrome are physical features revolving around development, because some of the genes are missing from the DNA, which is the genetic makeup of humans. People with this have slowed growth as well as developmental problems. Studies have often shown that people with Turner Syndrome have heart problems or if they don’t, have higher risk of heart disease.

What is the history of Turner Syndrome?

Turner Syndrome was first discovered by Dr. Henry Turner who was a physician based in Oklahoma. Turner was a pioneer endocrinologist who spent his whole life studying endocrinology. It was first described in 1938 in his manuscripts, but the cause was not identified until 1959. He presented his observations describing seven patients with the same developmental and physical features. These symptoms had never been reported before. Turner later wrote over 30 publications discussing Turner Syndrome.

What is the treatment for Turner Syndrome?

While there is no cure for Turner Syndrome yet, there are ways to help control the symptoms. Turner Syndrome affects a lot of the body’s growth. Most of the treatments are there to help make up for what was lost. Common things to use as treatment are growth hormones to help with height, and estrogen therapy which helps with starting puberty. Surgeries and medications are also common treatments for Turner Syndrome, but only when needed or a problem occurs.

How to treat turner syndrome

  • All people should have 46 human chromosomes that contain genes and DNA, in this particular case, there is no X chromosome in cells.
  • Of the genetic anomalies, Turner’s is the most common since it is estimated that 1000 babies a year are born with this genetic alteration.
  • Not all women and girls in the world have access to timely and adequate diagnosis and treatment due to a lack of education on the subject.

Turner Syndrome affects one in every 2,500 girls born worldwide. It is a genetic alteration in which the person is born without an X chromosome or is incomplete, causing a series of symptoms that, if not detected in time, can affect the quality of life of those who suffer from it.

Why does it happen?

This genetic abnormality develops randomly; it may be due to a problem with the sperm or egg, or it may occur early in fetal development.

This alteration is not inherited and it is unlikely that the parents of a girl with Turner Syndrome will have another baby with the same problem.

The symptoms appear at different stages of childhood or adolescence, they can be subtle or very noticeable due to major consequences such as kidney failure, heart problems, etc.

Turner Syndrome Characteristics

Before being born:

They can be seen by ultrasound or prenatal DNA analysis

  • Defective kidneys
  • Heart abnormalities
  • Large fluid collections that are not normal

In infancy or during childhood:

  • Wide neck with folds
  • Ears lower than normal
  • Separated nipples
  • High and narrow palate
  • Small or receding lower jaw
  • Heart problems
  • Low hairline in the back
  • Delay in growth
  • Kidney problems
  • Vision deficit

During adolescence or adulthood:

  • Learning problems such as hyperactivity with attention deficit
  • Difficulty socializing
  • Memory loss
  • Incomplete menstrual cycles
  • Short height
  • Infertility

How is it treated?

It must be detected within the first 5 years for any treatment to be effective.

If the doctor suspects that your daughter has the syndrome due to her symptoms, she will most likely order some laboratory tests to evaluate her chromosomes.

Normally it is treated with hormonal treatments, however, it will be necessary to see different specialists throughout life to avoid major complications.

Life with Turner Syndrome

Although life expectancy is shorter due to possible major complications, with early diagnosis and correct treatment, patients can enjoy a full life within normal standards.

Living with this syndrome can affect women and family members mentally and emotionally, causing self-esteem and depression. Therefore, it is of the utmost importance that there is always support from the immediate environment to achieve a healthy and natural social coexistence.

At ABC Medical Center we have specialists in different areas to offer you multidisciplinary care with the latest technology in screening tests and growth hormone replacement treatments that can help patients with Turner syndrome recover or achieve an excellent quality of life.

What is Turner Syndrome?

This syndrome is also referred to as Mosaic Turner Syndrome and Ullrich-Turner Syndrome and is a genetic condition that affects the sexual development in females. Turner Syndrome was discovered in 1938 by Dr. Henry.

This syndrome affects approximately one in two thousand five hundred female births everywhere. Usually if a woman is carrying a female fetus with this syndrome the pregnancy does not survive. Most often there is a miscarriage and if the pregnancy is carried to full term, the baby is stillborn. If the baby is born alive they are going to require care their whole life because of the various conditions that they suffer from all their lives.

Symptoms

If the pregnancy goes to full term and the baby is born alive she will usually be small in both size and length. They could also have a wide neck and chest along with distended hands and feet. They may also have eyelids that sag and a jaw that is underdeveloped but not all infants show immediate symptoms of Turner syndrome when they are born.

Some of the symptoms that show up as the infant female grows can include:

  • Having a delay in development and growth.
  • Short stature of only about four foot eight inches. They may often have normal height for the first three years and then slow down.
  • No growth spurt at puberty
  • Having an absence of prepubescent changes such as developing breasts or having a menstrual flow without hormone treatment at puberty.
  • Being unable to reach their development milestones of adolescent years.
  • Learning difficulties especially with math but most can write, memorize, and read well.
  • Having some communication problems
  • Flat or apathy affect
  • Shorter neck being enveloped with extra skin called a webbed neck.
  • Puffy feet and hands along with short fingers and toes
  • Obesity
  • Low ears
  • Low hairline
  • Having skeletal abnormalities such as deformity of the spine known as scollosis which occurs in about ten percent of the female with this condition.
  • Colored spots on their skin
  • Hearing problems
  • Irregular rotation of elbow and wrist joints
  • Soft nails that turn upward at the ends when they become old.

Because they have a lack of estrogen in their bodies it could even lead to an abrupt end in their menstruation cycles and stop their sexual development. Many of the infants born with this syndrome suffer from various cardiac conditions such as the narrowing of their aorta which in turn could cause high blood pressure. They may also have abnormal kidneys. Those with Turner Syndrome are also at risk for having middle ear infections. Most of them also have infertility problems due to ovary development.

Many females with Turner Syndrome have various medical conditions such as blood vessel problems, thyroid disorder, osteoporosis, and Type 2 diabetes. They may even suffer from low esteem because of their difference from other females during puberty.

Diagnosis

In order for a physician to determine if the fetus has turner syndrome it must be confirmed with special blood tests. At what point in life that it is diagnosed will depend on how severe the condition is. Usually the diagnosis is made during prenatal testing but it they may not be diagnosed until infancy or later when puberty does not occur or if they start to show several symptoms of the condition. The reason that the special blood test would be done during prenatal visits is that the there is an abnormal amniocentesis. It may even be suspected during an ultrasound. This blood test is called a karyote and looks at the chromosomes to see if there is only a single X chromosome instead of the normal two. They can also do karyotyping which is taking a picture of the chromosomes if the doctor suspects this condition.

Turner Syndrome Causes

The cause of a female having Turner Syndrome is the partial or complete absence of one of the two X chromosomes or if the chromosomes have been rearranged. Each parent is supposed to supply one of the X chromosomes to the fetus. If during the early stages of embryonic development a sex chromosome is lost it will result in a few of the cells growing and developing with only one instead of two X chromosomes. It can be referred to as chromosomal deficiency. One thing to note is that Turner Syndrome is not a hereditary disease. It is also not caused by health or environmental factors. There is no real answer as to how it happens that only one X chromosome is present but it is thought that it is random error during the formation of the sperm or eggs.

Treatment

If Turner Syndrome is found during childhood or during adolescence they are usually put under the care of a pediatric endocrinologist. This doctor is one that specializes in childhood conditions of metabolism and hormones. They can also use growth hormone injections in some of the individuals who have this condition. If these injections are started early enough in childhood it could increase their height by a few inches when they reach adulthood.

Many of the problems associated with Turner Syndrome can be taken care of with hormone replacement therapy. One such therapy is called estrogen replacement therapy which is usually started about the time of normal puberty to help with breast development. This is usually around twelve years of age. Later the doctor can start progesterone and estrogen to help start their menstrual cycle in order to keep the womb healthy. Osteoporosis can also be prevented by estrogen therapy.

If the female was born with a narrowing of the aorta or a heart murmur they may require surgery to correct these problems. If they have high blood pressure they may need medication to keep it under control. These females may also need to be treated for diabetes or having an under active thyroid. Most females with Turner Syndrome are infertile but there are reproduction techniques that can be done to help her become pregnant. One such technique is by using donor eggs which are turned into embryos using the husband’s sperm so the woman who has Turner Syndrome can become pregnant and carry the baby.

Life Expectancy

It is very important that females with Turner Syndrome have regular health check-ups because treatment and early preventive care is important and will let them to live a healthy, normal life. Usually females with this condition reach fifty years of age but if complications that can be associated with this syndrome are not detected they can die at an early age. Most of the early deaths are due to heart and kidney problems. In addition to possibly being stillborn they can also be aborted spontaneously.

Turner Syndrome Pictures

Collection of Photos, Images and Pictures of Turner Syndrome…

Turner syndrome is a rare condition that occurs in females as the result of an abnormality in one of the X chromosomes. Symptoms of the disorder generally develop by the age of five and can range from mild to severe. The most common symptoms include being shorter in height than girls of the same age, vision and hearing problems, kidney issues, infertility, and heart defects. Turner syndrome is a genetic disease that cannot be cured, though symptoms can be managed, and many individuals with the syndrome have a life expectancy very close to that of the general population. Quality of life and life expectancy can be improved with regular monitoring checkups and advanced treatment options.The treatments outlined below may be useful for patients.

Estrogen Replacement Therapy

How to treat turner syndrome

In the majority of cases, Turner syndrome causes delayed or absent puberty. Estrogen replacement therapy is needed to induce puberty and achieve healthy sexual functioning throughout life. Most patients with this syndrome begin estrogen replacement at the end of their childhood growth phase, generally between eleven and fourteen years old. Estrogen is taken from this point until ages forty-five to fifty-five, the average age range of menopause. In addition to inducing menstruation, estrogen replacement allows girls to have healthy breast development. This is important as many girls with this disease have underdeveloped breasts. Patients most commonly take estrogen replacement therapy as a pill or as a patch placed on the skin.

Get to know the next option in treating Turner syndrome now.

How to treat turner syndrome

Brian Levine, MD, MS, is board-certified in obstetrics and gynecology as well as in reproductive endocrinology and infertility.

How to treat turner syndrome

John Fedele / Blend Images / Getty Images

Turner syndrome (Monosomy X) and pregnancy loss are often related. Turner syndrome is a chromosome disorder in which a girl or woman has only one complete X chromosome. (Because a Y chromosome is needed for a person to be male, all babies with Turner syndrome are girls.) Though girls born with Turner syndrome usually have good odds for a normal life, the majority of babies with the condition are lost to miscarriage or stillbirth.

Prevalence

About 1 in every 2,500 newborn babies have Turner syndrome.   Yet according to research, monosomy X is present in 1–2% of all conceptions, but about 99% of affected babies are miscarried or stillborn. The condition is thought to be a factor in roughly 10% of all first trimester miscarriages.

Causes

The cause of Turner syndrome is an error in cell division that leaves the body’s cells with only one fully functioning X chromosome. Usually, the abnormality is already present at fertilization, originating in the sperm or the egg.

In the condition called Mosaic Turner syndrome, meaning some of the body’s cells have monosomy X while others have normal chromosomes, the cause is an error in cell division during very early embryonic development. No one knows exactly what causes these cell division errors.

Diagnosis

Turner Syndrome may be revealed as the cause of a miscarriage or stillbirth when parents pursue chromosomal testing after the pregnancy loss. In a current pregnancy, an ultrasound may reveal markers for the condition, but diagnosis can only be confirmed with genetic testing such as amniocentesis or chorionic villus sampling (CVS). And there have been some reports of false positives for the condition, even with amniocentesis.

In newborn babies, the diagnosis can be confirmed with a blood test.

Even though the high risk of miscarriage probably sounds scary, researchers believe that the majority of miscarriages related to Turner syndrome occur in the first trimester. By the time the baby has reached the point of being eligible for an amniocentesis, the odds of pregnancy loss are not nearly as staggering. It can be unnerving to learn that your baby has a chromosome disorder, though, so it’s a good idea to get in touch with support groups or a genetic counselor to prepare.

Prognosis

Despite the high risk of miscarriage and stillbirth, the overall prognosis for a baby with Turner syndrome is far from dismal after birth. There are some common health problems and physical characteristics, but girls with Turner syndrome usually have normal intelligence without life-threatening disabilities and can lead happy healthy lives. Many do not even find out that they have the disorder until adulthood.

Role of Genetics in Outcome

If you have lost a baby with Turner syndrome, it is no doubt confusing to hear all the stories of women living with Turner syndrome on one hand, and then, on the other hand, have your doctor tell you that Turner syndrome caused your miscarriage or stillbirth. The truth is that doctors aren’t completely sure why so many babies with Turner syndrome are miscarried while others make it through pregnancy without major complications.

The most likely explanation is that there is a genetic factor in play. It could be that the majority of babies who are conceived with Turner syndrome are missing genes necessary for life, whereas those who survive have a complete set of genes, despite having only one X chromosome.

A Word From Verywell

Regardless of the explanation, if you have lost a baby with Turner syndrome to miscarriage or stillbirth, it is normal and OK to grieve. Give yourself the time and space to recovery emotionally. The odds are low of the condition recurring in a future pregnancy, but a genetic counselor should be able to give you more information about any concerns you may have if you are planning to try again.

This blog post is about changes in Turner syndrome prognosis and Turner syndrome treatment.

by Debbie Browne

Dr. Michael Silberbach, Professor of Pediatrics/Radiology and Cardiologist, with over 20 years’ experience caring for children with heart disease, has also become the most respected physician within the Turner syndrome community.

His passion is for children who are facing genetically triggered heart disease, but especially the aortopathy of Turner syndrome females.

Since 2003, Dr. Silberbach has directed the “Healthy Heart Project” for Turner syndrome girls/women at the annual TS conference, for which our generous Leaping Butterfly Ministry donors have funded since 2013; this past July LBM provided 71 echocardiograms.

Dr. Silberbach with LBM Team Members (Debbie Browne, Kyle Fernandez, Emily Markowski)

When my daughter, Kellie, passed away on February 29, 2008, the society met me for lunch and recommended I consider giving Dr. Silberbach permission to access Kellie’s hospital records to include in his research study. I eagerly agreed in hopes of helping someone else in the future.

The “Good Doctor”, my nickname, goes over and above the call of duty to work tirelessly for a group whom he defines as underserved for way too long. To the TS community, me included, he has become our hero in so many ways.

Recently, I was privileged to have a phone conversation with him and listen with the greatest respect as he shared ‘why’ he does what he does. It moved me to tears.

He shared, “Even when it’s time for me to retire, I will still be doing research for those touched by Turner syndrome.” His story led into my story as I shared ‘why’ I do what I do, and we found one thing in common; we are in this for the long haul. We will not be shaken because those who have fought the odds deserve so much more.

And, that’s why I am so pleased to announce Dr. Silberbach’s willingness to come to Houston on February 22 to speak a Lunch and Learn Luncheon at Texas Children’s Hospital in The Woodlands and at our 5th annual Seeds of Faith Celebration that evening.

Thank you to Texas Children’s Hospital for hosting this Lunch and Learn educational seminar with area doctors!

At our Seeds celebration, you are so going to be so blessed to hear and meet a man who sincerely cares.

Welcome Dr. Silberbach!

Leaping Butterfly Ministry relies on donations to change lives, to create awareness of Turner syndrome, contribute funds for research, and support for those touched by TS. Click here to see how you can help.

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Among Danish women with Turner syndrome, those prescribed hormone therapy were less likely to develop diabetes, sustain an osteoporotic fracture or be hospitalized for stroke during nearly 4 decades of follow-up when compared with those not prescribed HT, according to findings published in The Journal of Clinical Endocrinology & Metabolism.

“No studies have so far evaluated the effect of hormone replacement therapy in Turner syndrome or other conditions of premenopausal hypogonadism,” Mette H. Viuff, MD, a doctoral student in the department of internal medicine and endocrinology at Aarhus University Hospital, Denmark, told Endocrine Today. “It is unlikely that proper randomized, placebo-controlled trials with HT as the active drug will ever be conducted because that would clearly be unethical. Therefore, we were interested in other ways of investigating the effects of HT on morbidity and mortality. We took advantage of the Danish registries where we could follow all individuals diagnosed with Turner syndrome and compare them with a large, age-matched control group of women.”

Viuff and colleagues analyzed data from 1,156 women who were diagnosed with Turner syndrome between 1960 and 2014, identified via the Danish Cytogenetic Central Registry, as well as 115,577 age-matched women without Turner syndrome identified via Statistics Denmark, who served as controls. Data from all the women were linked with person-level data from the National Patient Registry and the Medication Statistics Registry. Researchers compared mortality, hospitalizations and prescriptions among patients with and without Turner syndrome.

To assess the health effects of HT use among women with Turner syndrome, researchers analyzed data from 329 women with the 45,X karyotype in Turner syndrome who were aged 18 to 60 years at any time between 1994 and 2014. Among women with the 45,X karyotype, 285 were prescribed HT.

During follow-up (1977-2014), 14% of women with Turner syndrome in the overall cohort and 8% of controls died. Among women with Turner syndrome, mortality was almost fivefold increased, with an HR of 4.7 (95% CI, 3.7-6) when compared with controls. Endocrine and cardiovascular mortality and morbidity were significantly increased in the women with Turner syndrome vs. controls.

Researchers observed a trend toward lower mortality among women with Turner syndrome prescribed HT vs. those who were not treated, although the finding did not rise to significance (HR = 0.83; 95% CI, 0.38-1.79). Among HT-treated women with Turner syndrome, researchers observed a reduction in risk for hospital admission for stroke and lower risks for type 1 and type 2 diabetes, thyroid disorders, hypertension and osteoporotic fractures vs. women with Turner syndrome who were nottreated. Supporting the finding, researchers also observed lower use of thyroid hormone and antihypertensive medications among HT-treated women with Turner syndrome, and a “clear trend” toward lower use of bisphosphonates.

The researchers noted the findings demonstrate that HT plays a “pivotal role” in the general health of women with Turner syndrome.

“It turned out that a surprisingly large group of women with Turner syndrome did not receive HT, which allowed us to investigate the effects of HT,” Viuff said. “Treatment with estrogen in combination with progesterone seems to have a beneficial effect on several endocrine conditions in women with Turner syndrome, in particular, diabetes mellitus, thyroid disorders and osteoporotic fractures. Furthermore, it seems to decrease the risk for hypertension and stroke.”

Viuff said the findings stress the necessity of proper treatment and the importance of estrogen on general health in women with Turner syndrome.

“Surprisingly, we discovered that 13% of women with a 45,X karyotype never received estrogen treatment, underscoring that the international guidelines on clinical care of women with Turner syndrome are not followed in all instances,” Viuff said. “It emphasizes the need for specialized clinics caring for women with Turner syndrome to increase proper adherence to HT. We hope to enlighten other clinicians about the importance of continuous treatment.” – by Regina Schaffer

For more information:

Mette H. Viuff , MD, can be reached at Aarhus University, Department of Internal Medicine and Endocrinology, Palle-Juul Jensens Boulevard 99, 8200 Aarhus N, Denmark; email: [email protected]

Disclosures: The authors report no relevant financial disclosures.

Perspective

Ondrej Soucek, MD, PhD

In this paper by Viuff and colleagues, the authors described the positive effect of estrogen replacement therapy on mortality and morbidity in Turner syndrome. This interesting paper clearly shows that hormone replacement prevents osteoporotic fractures in women with Turner syndrome with the classical karyotype (45,X), where one of the sex chromosomes is missing. Although it has been shown by several previous studies that HT preserves bone density in this condition, where ovarian failure is one of the main characteristic features, this is the first retrospective, longitudinal, nationwide study confirming the positive effect on fracture rate.

In particular, whereas the osteoporotic fracture rate among hormone-substituted women with Turner syndrome with the 45,X karyotype did not differ from the rate among healthy controls, it was significantly lower compared with the rate among untreated women with the 45,X kerotype. This is in line with our own study showing a comparable rate of clinically significant fractures among children with Turner syndrome treated with growth hormone and estrogens and healthy girls (Soucek O, et al. J Clin Endocrinol Metab. 2018; doi:10.1210/jc.2017-02381.).

In addition, HT prevented women with the 45,X karyotype from experiencing stroke and the need for treatment of hypertension and lowered the risk for developing type 2 diabetes and hypothyroidism. Altogether, these findings underline the importance of life-long HT in Turner syndrome and clearly show the beneficial effect on skeletal and CV complications of the disease.