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Article

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2017

Ittiwut Chupong, Pratuangdejkul Jaturong, Supornsilchai Vichit, Muensri Sasipa, Hiranras Yodporn, Sahakitrungruang Taninee, Watcharasindhu Suttipong, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

BACKGROUND: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The...

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PMID: 27849622
DOI: 10.1515/jpem-2016-0048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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