id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_zegrk3zj4bhkfafm7j5hxwalr4	Krupali Bulsari	Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations	2018	6	.pdf	application/pdf	3956	441	58	Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations Background Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by deficiency of various with 11βOHD presented with peripheral precocious puberty and hypertension at age 15 years, fathered two children but Exome sequencing of the CYP11B1 gene detected the previously reported pathogenic mutation T318T (c.954G > A 0.2–8% of cases, while rare variants include 17ɑ-hydroxylase/17,20-lyase deficiency (17OHD) and 3β-hydroxysteroid correlation between the disruptive impacts of genetic mutations on the level of activity of 11β-hydroxylase and 17ɑhydroxylase/17,20-lyase enzymes. Here we describe the clinical phenotype, fertility, and longterm outcomes of a male (XY) with 11βOHD (and briefly his Due to her clinical presentation at age 22 years, the possibility of 17OHD was considered and was confirmed on blood In this study, we report on novel mutations in a patient with with severe 11-beta-hydroxylase deficiency and novel mutations in	./cache/work_zegrk3zj4bhkfafm7j5hxwalr4.pdf	./txt/work_zegrk3zj4bhkfafm7j5hxwalr4.txt