ABSTRACT
@EN 17α-hydroxylase deficiency is characterized by the elevation of ACTH and overproduction of mineralocorticoids, leading to low renin hypertension and hypokalemia. In addition, impaired production of sex hormones causes abnormalities of sexual
development. A 21-year-ol phenotypic female presented amenorrhea and absence of secondary sexual characteristics. She had 46 XY genotype and presented hypertension and mild hypokalemia. Endocrinologic studies demonstrated increased plasma
progesterone,
ACTH, corticosterone and DOC levels, And abnormally low production of cortisol, 17α-OH progesterone and testosterone were present. Following treatment with prednisolone, plasma progesterone, ACTH levels and blood pressure were normalized. We
present
the case with a brief history and review of the literature (J Kor Soc Endocrinol 8:363~369, 1993).
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