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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

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.

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.

Adjuvant gonadotropin‐releasing hormone analogues for chemotherapy induced premature ovarian failure in premenopausal women

Chemotherapy has significantly improved the prognosis for patients with cancer and some non‐cancerous conditions. This treatment, however, is associated with ovarian toxicity. Factors which may affect the risk level of chemotherapy‐induced ovarian damage include the patient's age and type of chemotherapy regime. Gonadotropin‐releasing hormone (GnRH) analogues, which are artificial hormone derivatives, can protect the ovaries by suppressing the gonadotrophin hormone, which stimulates ovary function and decreases blood flow, making them less sensitive to the chemotherapy drugs.

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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.

Adjuvant gonadotropin‐releasing hormone analogues for chemotherapy induced premature ovarian failure in premenopausal women

Chemotherapy has significantly improved the prognosis for patients with cancer and some non‐cancerous conditions. This treatment, however, is associated with ovarian toxicity. Factors which may affect the risk level of chemotherapy‐induced ovarian damage include the patient's age and type of chemotherapy regime. Gonadotropin‐releasing hormone (GnRH) analogues, which are artificial hormone derivatives, can protect the ovaries by suppressing the gonadotrophin hormone, which stimulates ovary function and decreases blood flow, making them less sensitive to the chemotherapy drugs.

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

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

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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 messenger molecule that helps coordinate the actions of various tissues; made in one part of the body and transported, via the bloodstream, to tissues and organs elsewhere in the body.
Infertility
Inability to conceive for at least one year after trying and having unprotected sex.
X Chromosome
A sex chromosome is a type of chromosome that participates in sex determination. Humans and most other mammals have two sex chromosomes, the X and the Y. Females have two X chromosomes in their cells, while males have both X and a Y chromosomes in their cells.

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 5
Congenital, Genetic Testing, Hormones

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