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Article

A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.

Current medical science - 1 Feb 2020

Wu Shi-Min, Gao Jin-Zhi, He Bin, Long Wen-Jun, Luo Xiao-Ping, Chen Ling

Abstract excerpt

X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism (HH) at puberty, arising from mutations of the nuclear receptor subfamily 0 group B member 1 (NR0B1) gene. This study investigated an extended family with two affected males (patient A: 23 years and patient B: 2 months old) and three carrier...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32166680
DOI: 10.1007/s11596-020-2161-9

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