id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_pmqhd6xqlvhhjasrunso45qx2q	Siew-Lee Wong	Seventeen Alpha-hydroxylase Deficiency	2006	5	.pdf	application/pdf	2697	349	58	Seventeen -hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroid result in mineralocorticoid excess, hypokalemic We report the case of a 15-year-old patient with 17OHD who had a female phenotype Key Words: 17 -hydroxylase deficiency, congenital adrenal hyperplasia, hypertension, hypokalemia Biglieri et al in a genotypical female, whose condition was characterized by hypertension, hypokalemia and lack of puberty.2 In 1970, New reported In gonads, the absence of 17,20-lyase activity prohibits the synthesis of androgens, which causes pseudohermaphroditism in males and sexual infantilism with primary hypogonadism in females.7 Plasma renin activity was normal, but aldosterone level (400 The clinical presentation of our patient was considered severe due to the completely female phenotype, although enzyme activity tests were not Patients with severe deficiency of 17 -hydroxylase 24 Brazilian patients with 17-hydroxylase deficiency.	./cache/work_pmqhd6xqlvhhjasrunso45qx2q.pdf	./txt/work_pmqhd6xqlvhhjasrunso45qx2q.txt