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Congenital Adrenal Hyperplasia Secondary to 17-Hydroxylase Deficiency: Two Sisters with Amenorrhea, Hypokalemia, Hypertension, and Cystic Ovaries

Ann Intern Med. 1969;70(1):69-75. doi:10.7326/0003-4819-70-1-69
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Two sisters with deficient 17-hydroxylase activity are described. The enzyme, 17-hydroxylase, is necessary for both Cortisol and estrogen synthesis. Deficiency of these hormones results in increased adrenocorticotrophic hormone (ACTH) and follicle-stimulating hormone (FSH). Synthesis of deoxycorticosterone (DOC) and corticosterone (B) does not require 17-hydroxylation and is increased with resultant hypertension. Estrogen lack results in primary amenorrhea and absent sexual maturation. Ovarian enlargement and infarction from twisting also occur. Suppressive therapy with dexamethasone and estrogens has lowered the blood pressure and produced feminization.





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