The condition is either diagnosed at birth because of the associated anomalies, or at puberty when there is absence of menses and delayed development of normal secondary sexual characteristics. There is no known prevention for this inherited disorder. A physical examination reveals underdeveloped genitalia, webbed neck, short stature , and abnormal development of the arms. Karyotyping shows 45 chromosomes. Serum luteinizing hormone is elevated.
Serum follicle stimulating hormone is elevated.
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