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A Case of17α-Hydroxylase Deficiency

Journal of the Korean Pediatric Society 1996;39(4):577-584.
Published online April 15, 1996.
A Case of17α-Hydroxylase Deficiency
Yong Kyu Lee, Yun Jong Kang, Chan Young Pak, Soo Young Choi, Moon Soo Park
Department of Pediatrics, HanIl Hospital, Seoul, Korea
17α-수산화효소 결핍증 1례
이용규, 강윤종, 박찬영, 최수영, 박문수
한일병원 소아과
A 12-year-old girl with hypertension, hypokalemia, cystic ovaries and absence of secondary sexual development is presented. Hormonal study revealed very low levels of cortisol, testosterone, estrogen, and high levels of progesterone, deoxycorticosterone, corticosterone, FSH and ACTH. Following treatment with dexamethasone and estrogen, the levels of the latter group remarkably decreased. Serum potassium level and blood pressure also became normal. With all the above hormonal profile and clinical findings, we reached the diagnosis of 17α-hydroxylase deficiency and report this case with the review of literature.
Key Words: 17α-hydroxylase deficiency

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