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Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.

Yi chuan = Hereditas - 20 Dec 2022

Song Qing-Qing, Zhang Su-Su, Zhang Zhen, Sun Jia, Yang Rui, Li Ji-Tong, Chen Hong

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is an autosomal recessive hereditary disease, and the 11β- hydroxylase deficiency is the second most common syndrome in different types of CAH. The occurrence of 11β- hydroxylase deficiency is related to the mutation of CYP11B gene on human autosome 8. In this report, we detected the gene mutation sites of a 14-year-old patient with 11β-hydroxylase deficiency by whole exon...

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PMID: 36927563
DOI: 10.16288/j.yczz.22-115

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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