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Korean Journal of Obstetrics & Gynecology 2007;50(4):684-688.
Published online April 1, 2007.
A case of primary amenorrhea with hypertension due to 17alpha-hydroxylase deficiency.
Dae Joong Park, Chung Hoon Kim, Sa Ra Lee, Hee Young Lee, Seung Hyuk Shim, Sung Hoon Kim, Hee Dong Chae, Byung Moon Kang
Department 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.
Key Words: 17alpha- Hydroxylase Deficiency, Hypertension, Primary Amenorrhea


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