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Turner Syndrome
Definition 1
A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility. (NCI Thesaurus)
Definition 2
A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO), associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads, sexual infantilism (HYPOGONADISM), webbing of the neck, cubitus valgus, elevated GONADOTROPINS (LH and FOLLICLE STIMULATING HORMONE) and decreased estradiol level in blood. Studies of Turner Syndrome and its variants have contributed significantly to the understanding of SEX DIFFERENTIATION. (NLM, Medical Subject Headings)
Definition 3
genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples. (NIH CRISP Thesaurus)
More information
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.
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
Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.
Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. 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 help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. (NIH: National Institute of Child Health and Human Development)
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