- Turner syndrome
- A genetic disorder affecting only females, in which the patient has one X chromosome in some or all cells; or has two X chromosomes but one is damaged. Signs include short stature, delayed growth of the skeleton, shortened fourth and fifth fingers, broad chest, and sometimes heart abnormalities. Women with Turner syndrome are usually infertile due to ovarian failure. Diagnosis is by blood test (karyotype). Treatment may include human growth hormone and estrogen replacement
* * *a disorder of gonadal differentiation in patients phenotypically female, marked by short stature, undifferentiated (streak) gonads, and variable abnormalities that may include webbing of the neck, low posterior hairline, cubitus valgus, and cardiac defects; it is typically associated with absence of the second sex chromosome (XO or 45,X), although structural abnormality of one X chromosome or mosaicism (e.g., XX/XX or X/XXX) may also be responsible. Called also gonadal dysgenesis.
Turner syndrome; newborn showing webbed neck with low hairline, shield-shaped chest with widespread nipples, abnormal ears, and micrognathia.
Medical dictionary. 2011.