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Article

Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.

Endocrine - 1 Jun 2024

Tang Sijing, Xu Wei, Xuan Miao, Liu Qi, Li Ying, Kong Dehong, Yang Huanhuan, Liu Ying, Xue Ying

Abstract excerpt

PURPOSE: 11β-hydroxylase deficiency (11β-OHD) constitutes a rare form of congenital adrenal hyperplasia (CAH), typically accounting for ~5-8% of CAH cases. Non-classical 11β-OHD is reported even more rarely and frequently results in misdiagnosis or underdiagnosis due to its mild clinical symptoms. METHODS: A clinical, biochemical, radiological, and genetic study was conducted on a 9-year-old girl presenting with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38411873
DOI: 10.1007/s12020-024-03746-y

Genes

CYP11B1

Variants

Provenance

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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