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Article

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Sept 2021

Akiba Kazuhisa, Aso Keiko, Hasegawa Yukihiro, Fukami Maki

Abstract excerpt

OBJECTIVES: 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common form of 46,XY disorders of sex development. CASE PRESENTATION: A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic SRD5A2 variant (c.650C>A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two...

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Source

Identifiers

PMID: 34162032
DOI: 10.1515/jpem-2020-0678

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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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