Congenital adrenal hyperplasia (CAH) due to steroid 11-beta hydroxylase deficiency (11beta-OHD) is a rare genetic disorder of steroidogenesis transmitted as an autosomal recessive trait. We describe a new case of 11beta-OHD CAH caused by compound heterozygosity for a nov...
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7DS+4Ato G)in one CYP11B1allele and R448Hin exon 8in the other. Dumic K,Wilson R,Thanasawat P,et al. European Journal of Pediatrics . 2010...
New . (2010) Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other. European Journal of Pediatrics 169 , 891-894 Online publication date: 1-Jul-2010. /...
STEROID biosynthesis in the mammalian adrenal cortex is dependent on the activity of a number of complex enzyme systems, including several hydroxylases which require NADPH as cofactor1. NADPH is continuously generated from NADP within the adrenal cortex by the action of several dehydrogenases acting ...
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We report the case of a 5-year-old boy diagnosed with congenital adrenal hyperplasia due to 11-hydroxylase deficiency, revealed by disorders of sex development (DSD) and acute pulmonary edema due to severe hypertension. We considered the diagnosis based on biological and radiol...
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