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National Organization for rare disorders is one organization that is supporting this disease.

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Turner Syndrome - NORD (National Organization for Rare Disorders)

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The symptoms and severity of Turner syndrome can be quite variable from one person to another. Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all of the symptoms discussed below.

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How many people does this disorder affect?

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How many people does this disorder affect?

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Turner syndrome is a rare chromosomal which affects females. It affects 1 female in 2,000-2,500 live female births and  more than 70,000 women and girls in the USA have Monosomy X.

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Turner Syndrome - NORD (National Organization for Rare Disorders)

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The symptoms and severity of Turner syndrome can be quite variable from one person to another. Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all of the symptoms discussed below.

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There's no cure for Turner syndrome but many of the associated symptoms can be treated. So, there is  not much research being done on the cure but they are doing prenatal cell-free DNA screening.

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Turner syndrome affects only females as the result of a missing or partially missing X chromosome, causing a variety of medical and developmental problems.

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In most cases the turner syndrome are not inherited it abnormality occurs during the formation of eggs and sperm that affected the person´s parent

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To use the sharing features on this page, please enable JavaScript.

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 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.

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.

Additional Information & Resources

Patient Support and Advocacy Resources

References

Bondy CA. New issues in the diagnosis and management of Turner syndrome. Rev Endocr Metab Disord. 2005 Dec;6(4):269-80. Review. Citation on PubMed

Bondy CA. Turner syndrome 2008. Horm Res. 2009 Jan;71 Suppl 1:52-6. doi: 10.1159/000178039. Epub 2009 Jan 21. Review. Citation on PubMed

Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. Epub 2006 Oct 17. Citation on PubMed

Doswell BH, Visootsak J, Brady AN, Graham JM Jr. Turner syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). 2006 May;45(4):301-13. Review. Citation on PubMed

Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. Review. Citation on PubMed

Ho VB, Bakalov VK, Cooley M, Van PL, Hood MN, Burklow TR, Bondy CA. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation. 2004 Sep 21;110(12):1694-700. Epub 2004 Sep 7. Citation on PubMed

Hong D, Scaletta Kent J, Kesler S. Cognitive profile of Turner syndrome. Dev Disabil Res Rev. 2009;15(4):270-8. doi: 10.1002/ddrr.79. Review. Citation on PubMed or Free article on PubMed Central

Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007 Oct 9;116(15):1663-70. Epub 2007 Sep 17. Citation on PubMed

Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician. 2007 Aug 1;76(3):405-10. Review. Citation on PubMed

Ostberg JE, Conway GS. Adulthood in women with Turner syndrome. Horm Res. 2003;59(5):211-21. Review. Citation on PubMed

Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004 Sep 16;351(12):1227-38. Review. Citation on PubMed

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The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

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To use the sharing features on this page, please enable JavaScript. 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.

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For this disease, there is no cure, but you can do growth hormone therapy and estrogen therapy.

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Turner Syndrome - NORD (National Organization for Rare Disorders)

# data[].attributes.attachment_link.description
The symptoms and severity of Turner syndrome can be quite variable from one person to another. Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all of the symptoms discussed below.

# data[].attributes.body
There are many symptoms for the disorder Monosomy X (Turner’s Syndrome). Some include:
-Short stature
-Abnormal ovarian development leading to premature ovarian failure.
-Birth defects of the heart, kidneys, and skeleton.
-Wide, webbed neck.
-Swelling associated with blood pressure problems.
-Hormonal irregularities including thyroid dysfunction.

# data[].attributes.attachment_link.readable_text
Turner syndrome, also known as monosomy X, affects around 1 in every 2,000 to 2,500 live female births. Estimates indicate more than 70,000 women and girls living in the U.S. have Turner syndrome, a chromosome disorder involving the X chromosome.

Chromosomes are the packages of genetic information, made of DNA, that contain the instructions the body uses to build a person. Chromosomes come in 23 pairs, with most people having 46 total chromosomes, which includes a pair of "sex chromosomes."

In most females, those sex chromosomes are two "X" chromosomes; however, in most cases of Turner syndrome, the affected individual has only one X chromosome. In other cases of Turner syndrome, there may be only part of the second X chromosome missing, or it may have a structural abnormality. Turner syndrome almost always occurs as a chance event, and rarely ever runs in families.

Turner syndrome has a wide array of symptoms that can affect different organ systems. The most common features of Turner syndrome include:

Short stature

Abnormal ovarian development leading to premature ovarian failure

Birth defects of the heart, kidneys, and skeleton

Wide, webbed neck

Swelling associated with blood pressure problems

Hormonal irregularities including thyroid dysfunction

It is important to note that girls with Turner syndrome typically have normal intelligence, although some may experience mild learning disabilities.

How Is Turner Syndrome Diagnosed?

Turner syndrome is often diagnosed before birth through tests called amniocentesis and chorionic villus sampling (CVS). Both advanced diagnostic tests can be arranged through the SSM Health Cardinal Glennon St. Louis Fetal Care Institute. Diagnosis can also be made after birth, typically through blood testing.

Genetic screening such as noninvasive prenatal testing (NIPT) identifies pregnancies at increased probability of having Turner syndrome. Additionally, prenatal ultrasound may reveal physical findings associated with Turner syndrome, such as fluid accumulation and swelling as well as heart or kidney abnormalities.

What can I expect if I have been told my unborn baby may have Turner syndrome?

At the Cardinal Glennon St. Louis Fetal Care Institute you will meet with a team of experts who can provide information about your baby's diagnosis. This will involve:

Maternal-fetal medicine specialists

Genetic counselors

Clinical geneticists

Social workers

Footprints coordinators/palliative care nurses

Neonatologists

Additionally, based on your unique pregnancy, you may have follow-up visits with other pediatric specialists.

In most cases, a detailed fetal ultrasound will be performed during your first visit to the Cardinal Glennon St. Louis Fetal Care Institute. Amniocentesis is also available if this test has not been performed yet.

A Cardinal Glennon St. Louis Fetal Care Institute nurse coordinator will serve as your primary contact and will coordinate the care of you and your baby throughout the pregnancy.

The goal of the Cardinal Glennon St. Louis Fetal Care Institute team is to provide families with the support, information, knowledge and options to make the decisions that are best for their baby. We recognize that the diagnosis of Turner syndrome affects a family greatly and our hope is to be able to provide families with the resources they need during a difficult and overwhelming time.

How Will Turner Syndrome Affect My Baby After Delivery?

Because of the complex nature of Turner syndrome, babies often face medical challenges during delivery and in the newborn period, which is why it is recommended that they be delivered at a hospital with the team, experience, and facilities to handle their unique needs.

Every baby's situation is different, and the Cardinal Glennon St. Louis Fetal Care Institute team works with each family to prepare for their baby's delivery and to create a customized care plan to follow after birth.

What Are The Treatment Options for Babies With Turner Syndrome?

Treatment of Turner syndrome is customized for each female and involves a comprehensive medical plan that addresses each patient's specific symptoms. Early intervention is important in ensuring children with Turner syndrome reach their potential.

Babies with Turner syndrome will likely need the care of a multidisciplinary medical team, which may include:

Pediatricians

Medical geneticists

Cardiologists

Surgeons

Endocrinologists

Preparing for the birth of a baby with Turner syndrome can be overwhelming and scary. That's why we're available to help 24 hours a day, 7 days a week. For more information or to schedule an appointment, call us at 314-268-4037 or toll free at 877-SSM-FETL (877-776-3385).

# data[].attributes.attachment_link.title
Monosomy X (Turner Syndrome): Diagnosis & Treatment

# data[].attributes.attachment_link.description
Turner syndrome, also known as monosomy X, affects around 1 in every 2,000 to 2,500 live female births. Estimates indicate more than 70,000 women and girls living in the U.S. have Turner syndrome, a chromosome disorder involving the X chromosome.

# data[].attributes.body
Monosomy X also called Turner syndrome

# data[].attributes.attachment_link.readable_text
Turner syndrome has a wide array of symptoms that can affect different organ systems. The most common features of Turner syndrome include:

Short stature

Abnormal ovarian development leading to premature ovarian failure

Birth defects of the heart, kidneys, and skeleton

Wide, webbed neck

Swelling associated with blood pressure problems

Hormonal irregularities including thyroid dysfunction

It is important to note that girls with Turner syndrome typically have normal intelligence, although some may experience mild learning disabilities.

How Is Turner Syndrome Diagnosed?

Turner syndrome is often diagnosed before birth through tests called amniocentesis and chorionic villus sampling (CVS). Both advanced diagnostic tests can be arranged through the SSM Health Cardinal Glennon St. Louis Fetal Care Institute. Diagnosis can also be made after birth, typically through blood testing.

Genetic screening such as noninvasive prenatal testing (NIPT) identifies pregnancies at increased probability of having Turner syndrome. Additionally, prenatal ultrasound may reveal physical findings associated with Turner syndrome, such as fluid accumulation and swelling as well as heart or kidney abnormalities.

What can I expect if I have been told my unborn baby may have Turner syndrome?

At the Cardinal Glennon St. Louis Fetal Care Institute you will meet with a team of experts who can provide information about your baby's diagnosis. This will involve:

Maternal-fetal medicine specialists

Genetic counselors

Clinical geneticists

Social workers

Footprints coordinators/palliative care nurses

Neonatologists

Additionally, based on your unique pregnancy, you may have follow-up visits with other pediatric specialists.

In most cases, a detailed fetal ultrasound will be performed during your first visit to the Cardinal Glennon St. Louis Fetal Care Institute. Amniocentesis is also available if this test has not been performed yet.

A Cardinal Glennon St. Louis Fetal Care Institute nurse coordinator will serve as your primary contact and will coordinate the care of you and your baby throughout the pregnancy.

The goal of the Cardinal Glennon St. Louis Fetal Care Institute team is to provide families with the support, information, knowledge and options to make the decisions that are best for their baby. We recognize that the diagnosis of Turner syndrome affects a family greatly and our hope is to be able to provide families with the resources they need during a difficult and overwhelming time.

How Will Turner Syndrome Affect My Baby After Delivery?

Because of the complex nature of Turner syndrome, babies often face medical challenges during delivery and in the newborn period, which is why it is recommended that they be delivered at a hospital with the team, experience, and facilities to handle their unique needs.

Every baby's situation is different, and the Cardinal Glennon St. Louis Fetal Care Institute team works with each family to prepare for their baby's delivery and to create a customized care plan to follow after birth.

What Are The Treatment Options for Babies With Turner Syndrome?

Treatment of Turner syndrome is customized for each female and involves a comprehensive medical plan that addresses each patient's specific symptoms. Early intervention is important in ensuring children with Turner syndrome reach their potential.

Babies with Turner syndrome will likely need the care of a multidisciplinary medical team, which may include:

Pediatricians

Medical geneticists

Cardiologists

Surgeons

Endocrinologists

Preparing for the birth of a baby with Turner syndrome can be overwhelming and scary. That's why we're available to help 24 hours a day, 7 days a week. For more information or to schedule an appointment, call us at 314-268-4037 or toll free at 877-SSM-FETL (877-776-3385).

# data[].attributes.attachment_link.title
Monosomy X (Turner Syndrome): Diagnosis & Treatment

# data[].attributes.attachment_link.description
Turner syndrome has a wide array of symptoms that can affect different organ systems. The most common features of Turner syndrome include: Short stature Abnormal ovarian development leading to premature ovarian failure Birth defects of the heart, kidneys, and skeleton Wide, webbed neck Swelling associated with blood pressure problems Hormonal irregularities including thyroid dysfunction It is important to note that girls with Turner syndrome typically have normal intelligence, although some may experience mild learning disabilities.