All issues > Volume 39(4); 1996

Case Report

J Korean Pediatr Soc. 1996;39(4):577-584. Published online April 15, 1996.

A Case of17α-Hydroxylase Deficiency

Yong Kyu YK Lee¹, Yun Jong YJ Kang¹, Chan Young CY Pak¹, Soo Young SY Choi¹, Moon Soo MS Park¹

¹Department of Pediatrics, HanIl Hospital, Seoul, Korea

Abstract

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.

Keywords :17α-hydroxylase deficiency