NON CLASSIC CONGENITAL ADRENAL HYPERPLASIA MASQUERADING AS PCOS
Abstract
Abstract : Non classic congenital adrenal hyperplasia (NC-CAH) is a common autosomal recessive disorder that can present in childhood, adolescence, and adulthood. The typical symptoms of hirsutism,oligomenorrhea, infertility, acne, and premature pubarche lead to an ascertainment bias in favor of identifying affected women. The nature of the symptoms leads to consideration of polycystic ovary = syndrome in the differential diagnosis. Late-onset CAH is a recognized secondary cause of PCOS and appears to be more common than the classic variety. Although NC-CAH is a genetic disorder, the use of morning follicular phase 17-OHP concentrations and ACTH stimulation tests are essential = diagnostic studies due to the complexity of the CYP21A2 locus. Once the diagnosis is confirmed, genetic analysis may be useful. The specific treatment should be individualized and directed towards the individuals symptoms and current medical needs.We present a case of 23-yearold female who presented with hirsutism, menstrual dysfunction and infertility. She was initially diagnosed as PCOS and started on treatment but without improvement and on detailed evaluationshe was diagnosed as a case of nonclassical adrenal hyperplasia and polycystic ovaries. Proper treatment of underlying etiology led to reversal of her symptoms.
Keyword :Non classic congenital adrenal hyperplasia,PCOS,17-OHprogesterone
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