Journal of Korean Endocrine Society 2001;16(1):130-133.
Published online February 1, 2001.
A Case of Primary Amenorrhea due to 17 -Hydroxylase Deficiency.
Hong Seub Rim, Seon Hwa Lee, Jung Min Hong, Jae Hyun Nam, Hee Back Park, Chul Woo An, Do Min Ki, Sung Kil Lim, Young Duk Song, Hyun Chul Lee, Kap Bum Huh, Inn Soo Kang
1Department of Internal medicine, Inchon Christian Hospital, Inchon, Korea.
2Division of Endocrinology, Department of Internal Medicine, Younsei University, college of Medicine, Seoul, Korea.
3Department of Obstetrics and Gynecology, Samgsung Cheil Hospital & Women's Health Care Center, SungKyunKwan University, College of Medicine, Seoul, Korea.
17 -Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia that is characterized by primary amenorrhea, absence of secondary sex characteristics, hypertension, and a hypokalemic alkalosis that has resulted resulting from increased production of deoxycorticosterone and corticosterone by the adrenal. The diagnosis of this enzyme deficiency can be recognized by the increasing serum concentrations of steroid precursors, DOC and corticosterone and the decreasing concentrations of cortisol, and adrenal androgens. We diagnosed this in a 19 year old female who presented with primary amenorrhea. We report this case with a review of the literatures.
Key Words: 17 alpha hydroxylase deficiency, Congenital adrenal hyperplasia, Primary amenorrhea

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