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Turner Syndrome

A condition in which a girl or woman is partially or completely missing an X chromosome.

PubMed Health Glossary
(Source: NIH - National Institute of Child Health and Human Development)

About Turner Syndrome

Turner syndrome is a disorder caused by a partially or completely missing X chromosome. This condition affects only females.

Most people have 46 chromosomes in each cell—23 from their mother and 23 from their father. The 23rd pair of chromosomes are called the sex chromosomes—X and Y—because they determine whether a person is male or female. Females have two X chromosomes (XX) in most of their cells, and males have one X chromosome and one Y chromosome (XY) in most of their cells. A female with all of her chromosomes is referred to as 46,XX. A male is 46,XY.

Turner syndrome most often occurs when a female has one normal X chromosome, but the other X chromosome is missing (45,X). Other forms of Turner syndrome result when one of the two chromosomes is partially missing or altered in some way.

Turner syndrome causes a variety of symptoms in girls and women. For some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems. In general, women with Turner syndrome have female sex characteristics, but these characteristics are underdeveloped compared to the typical female....Read more about Turner Syndrome NIH - National Institute of Child Health and Human Development

What works? Research summarized

Evidence reviews

Somatropin (Genotropin) for Subcutaneous Injection: The Treatment of Short Stature Associated with Turner Syndrome in Patients Whose Epiphyses are not Closed [Internet]

Turner syndrome (TS) is characterized by the absence of all or part of a normal second sex chromosome in females. Around 50% of patients with TS have sex chromosome abnormalities, while the remaining half have one sex chromosome. Mutations of chromosomes in patients with TS lead to a range of clinical features including, but not limited to, short stature. Adult height of untreated women with TS is approximately 20 cm shorter than that of adult women in the general population, with the average height being around 143 cm. Recombinant human growth hormone (rhGH), also called somatropin, is used to accelerate short-term growth in girls with TS.

Recombinant growth hormone for children and adolescents with Turner syndrome

Turner syndrome (TS) is a genetic disorder affecting the sexual development and appearance of girls and women. Women with TS are much shorter than other women (by about 21 cm or eight inches). To try to overcome slow growth, recombinant growth hormone (hGH) has been given. The hormone is injected under the skin several times a week until final adult height is achieved. The review found some evidence that hGH does increase short‐term growth in girls with TS and adult height (an increase of perhaps five centimeters or two inches). However, girls treated with hGH are still substantially shorter than other women as adults. Final height in 61 treated women was 148 cm and 141 cm in 43 untreated women.

Irritable Bowel Syndrome in Adults: Diagnosis and Management of Irritable Bowel Syndrome in Primary Care [Internet]

This guideline covers areas relevant to the diagnosis and management of irritable bowel syndrome (IBS) reflecting the complete patient journey, from the person presenting with IBS symptoms, positive diagnosis and management, targeted at symptom control. The guideline incorporates Cochrane reviews, published NICE clinical and public health guidance, Health Technology Assessment reports, systematic and health economic reviews produced by the National Collaborating Centre for Nursing and Supportive Care. Recommendations are based on clinical and cost effectiveness evidence, and where this is insufficient, the GDG used all available information sources and experience to make consensus recommendations using nominal group technique.

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Summaries for consumers

Recombinant growth hormone for children and adolescents with Turner syndrome

Turner syndrome (TS) is a genetic disorder affecting the sexual development and appearance of girls and women. Women with TS are much shorter than other women (by about 21 cm or eight inches). To try to overcome slow growth, recombinant growth hormone (hGH) has been given. The hormone is injected under the skin several times a week until final adult height is achieved. The review found some evidence that hGH does increase short‐term growth in girls with TS and adult height (an increase of perhaps five centimeters or two inches). However, girls treated with hGH are still substantially shorter than other women as adults. Final height in 61 treated women was 148 cm and 141 cm in 43 untreated women.

Childhood Extracranial Germ Cell Tumors Treatment (PDQ®): Patient Version

Expert-reviewed information summary about the treatment of childhood extracranial germ cell tumors.

Treatment for neuralgic amyotrophy

Neuralgic amyotrophy is a painful disorder of the peripheral nervous system that occurs in episodes. It affects the arms and shoulders, and leads to muscle wasting and weakness. There has been anecdotal evidence that corticosteroids can have a favourable effect on pain and recovery. No randomised clinical trial could be found in either the original 2009 review or when searches were updated in 2011 to validate the effects of this type of treatment, or any treatment. One randomised controlled trial comparing prednisolone to placebo is currently awaiting formal reporting.

Terms to know

Congenital
Present since birth.
Genetic Testing
Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder.
Hormones
A chemical produced in one part of the body and released into the blood to trigger or regulate particular functions of the body. For example, insulin is a hormone made in the pancreas that tells other cells when to use glucose for energy. Synthetic hormones, made for use as medicines, can be the same or different from those made in the body.
Infertility
Inability to conceive for at least one year after trying and having unprotected sex.

More about Turner Syndrome

Photo of a young adult woman

Also called: 45, X syndrome, 45X0, Bonnevie-Ullrich syndrome, Gonadal dysgenesis syndrome, Karyotype 45, X, Pterygolymphangiectasia syndrome, Turner's syndrome, XO syndrome, Monosomy X, Ullrich-Turner syndrome, TS

Other terms to know: See all 4
Congenital, Genetic Testing, Hormones

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