Orginal Publication Date
MCV/Q, Medical College of Virginia Quarterly
Amenorrhea as the first manifestation of a steroid biosynthetic defect is rather unusual. The common forms of congenital adrenal hyperplasia are classic examples of steroid biosynthetic defects. Yet in genotypic females, this disorder is usually evident from birth because of virilization. Effective treatment usually ensues and amenorrhea is only a problem when control is inadequate. However, there are individuals whose disorder will be manifest for the first time in the postnatal or adult period. In addition, multiple other steroid defects have now been clearly delineated. Many of these individuals will have amenorrhea, virilization, or sexual ambiguities as part of the clinical picture. The paper will describe some of the more clearly delineated steroidal biosynthetic defects. Also the clinical management of patients with postnatal onset of 21-hydroxylase deficiency form of congenital adrenal hyperplasia will be discussed.
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