Turner syndrome: diagnosis and management.

摘要: Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The is characterized by the partial or complete absence X chromosome (45,X karyotype). Patients with are at risk congenital heart defects (e.g., coarctation aorta, bicuspid aortic valve) and may have progressive root dilatation dissection. These patients also lymphedema, renal malformation, sensorineural hearing loss, osteoporosis, obesity, diabetes, atherogenic lipid profile. usually normal intelligence but problems nonverbal, social, psychomotor skills. Physical manifestations be subtle can include misshapen ears, a webbed neck, broad chest widely spaced nipples, cubitus valgus. A diagnosis should considered girls short stature primary amenorrhea. treated for early childhood growth hormone therapy, supplemental estrogen initiated adolescence pubertal development prevention osteoporosis. Almost all women infertile, although some conceive assisted reproduction.