pediatrics
Turner Syndrome
Key Points
Girls are missing all or part of one of their two X chromosomes in some or all cells tested. Manifestations vary, but short stature, webbed neck, broad chest, gonadal dysgenesis, and cardiac anomalies (commonly coarctation of the aorta and bicuspid aortic valve) are common; intellectual disability is rare. Risk of gonadal cancer is increased; it is often recommended to remove the gonads prophylactically, although this is controversial. Do routine age-specific screening to detect associated medical conditions (eg, cardiac and renal anomalies). Treat with hormones to initiate puberty and maintain secondary sexual characteristics. Treat specific manifestations, and provide social and educational support and genetic counseling. 