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.
Estrogen therapy is started at 12 or 13 years old to stimulate the development of secondary sexual characteristics so that girls affected with this disorder will have a more normal appearance as an adult. Estrogen therapy, however, will not reverse infertility . Cardiac surgery is sometimes necessary to correct heart defects. This chromosome abnormality is associated with numerous medical conditions and problems in addition to the lack of sexual maturity. However, some syndromes include pectus excavatum.