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Article

Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report.

BMC endocrine disorders - 7 Mar 2022

Cheng Tiantian, Liu Jing, Sun Wenwen, Song Guangyao, Ma Huijuan

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH), characterized by defective adrenal steroidogenesis, is transmitted in an autosomal recessive manner. Mutations in the steroid 21-hydroxylase gene CYP21A2 causing steroid 21-hydroxylase deficiency account for most cases of CAH. The c.145l-1452delGGinsC gene mutation is rare, and only one case has been reported, but the form of gene mutation is different from this...

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Identifiers

PMID: 35255871
DOI: 10.1186/s12902-022-00969-w
PMCID: PMC8900299

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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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