Korean J Obstet Gynecol.
2007 Apr;50(4):684-688.
A case of primary amenorrhea with hypertension due to 17alpha-hydroxylase deficiency
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- 1Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea. chnkim@amc.seoul.kr
Abstract
- 17alpha- hydroxylase deficiency is a rare form of congenital adrenal hyperplasia and characterized by the coexistance of hypertension caused by the hyperproduction of mineralocorticoid precursors and sexual abnormalities, such as female pseudohermaphroditism and sexually infantile female with 46,XX karyotype or male pseudohermaphroditism with 46, XY karyotype, due to impaired production of sex hormone. We experienced a case of 17alpha- hydroxylase deficiency (46,XX) presented with primary amenorrhea, sexual infantilism, and hypertension. We report this case with a brief review of the concerned literatures.
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