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Article

Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.

Molecular genetics & genomic medicine - 1 Oct 2020

Fan Lijun, Song Yanning, Polak Michel, Li Lele, Ren Xiaoya, Zhang Beibei, Wu Di, Gong Chunxiu

Abstract excerpt

BACKGROUND: Patients with steroid 5α-reductase 2 deficiency (5α-RD) caused by SRD5A2 (OMIM #607306) variants present variable genotypes and phenotypes. The genotype-phenotype correlations remain unclear. METHODS: We investigated genotype-phenotype correlations of SRD5A2 variants in a large Chinese single-center cohort. Phenotypes were categorized using the external masculinization score (EMS), urethral meatus and...

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Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Disorder of Sex Development, 46,XY

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genitalia, Male

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Source

Open in PubMed Open full text

Identifiers

PMID: 32713132
DOI: 10.1002/mgg3.1431
PMCID: PMC7549558

Genes

SRD5A2

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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