Turner Syndrome

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Most are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis and thyroid problems.

Other physical features typical of Turner syndrome are

• Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck
• Low hairline in the back
• Low-set ears
• Swollen hands and feet

There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.

National Institute of Child Health and Human Development

Turner Syndrome on Wikipedia

'''Turner syndrome''' is a human genetic abnormality, caused by a nondisjunction in the XY sex-determination system that occurs in females (1 out of every 2,500 births). Instead of the normal XX sex chromosomes, only one X chromosome is present and fully functional; this is called 45,X or X0. In Turner syndrome, female sexual characteristics are present but underdeveloped. Common symptoms of Turner syndrome include: *Short stature *Lymphoedema (swelling) of the hands and feet *Broad chest and widely-spaced nipples *Low hairline *Low-set ears *Reproductive sterility Other symptoms include a small lower jaw, cubitus valgus (turned-out elbows), a webbed neck, and soft, upturned nails. Less common are pigmented mole (skin marking)s, hearing loss, and a high-arch palate. Turner syndrome manifests itself differently in different people, and no two women need share the same symptoms. Turner syndrome is caused by the loss of genetic material from one of the sex chromosomes. In Turner syndrome, the embryo has only one functioning sex chromosome. This chromosome is always an X chromosome, as an embryo with only a Y chromosome is incapable of survival. The remaining X chromosome is either absent or damaged. Mosaic (genetics) Turner syndrome, where some of the cells have two sex chromosomes but others have only a single functioning X chromosome, is also possible. In cases of mosaic Turner syndrome, the symptoms are usually less pronounced. There are no known risk factors for Turner syndrome. Approximately 98% of all foetuses with Turner syndrome spontaneously abort. Foetuses with Turner syndrome make up about 10% of the total number of spontaneously aborted foetuses in the United States. The incidence of Turner syndrome in live births is between 1 in 2,500 and 1 in 3,000. Turner syndrome may be diagnosed by an amniocentesis during pregnancy. Sometimes, ...   [ Read More ]

External Resources

Turner's Syndrome Society, Texas - Providing links and information about Turner's Syndrome. Definition and Synonyms, FAQ, TSS Societies (National, State, and Local), Associated Links, Newsgroup discussions, Conference Information.

The Turner's Syndrome Society of the US - Learn about this disease, find medical information, order publications, share experiences, see some TS kids, and get screening information for TS.

The National University Hospital Turner Support Group - For patients with Turner Syndrome and their families, combined with the pharmaceutical company Serono Singapore Pte. Ltd. to co-organise biannual meetings and parties for the group.

National Library of Medicine - Offers synonyms for Turner syndrome, a summary and a list of major features.

Pediatric Oncall - Information about approach to a child with Turner's syndrome.

Turner Syndrome: Toward Early Recognition and Improved Outcomes - Detailed overview of this condition, including clinical features, genetics, diagnosis, defects and medical problems associated with the syndrome, and recommendations for treatment. Includes many photos. [Requires free registration.]

Turner Syndrome - A site prepared by the family of a young girl with TS. Includes her story, information about the syndrome and its treatment, FAQs, photos and links. [English, Turkish]

Turner Syndrome Clinical Trials - Explains the importance of participating in Turner Syndrome clinical trials and how even participants who take placebos contribute and benefit from volunteering.

NORD - Turner Syndrome - Offers alternative names, a general discussion and further resources.

Turners Syndrome Support - A personal site offering support and information.