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Article

Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.

Fetal and pediatric pathology - 1 Feb 2022

Rafigh Mahboobeh, Salmaninejad Arash, Sorouri Khorashad Behzad, Arabi Azadeh, Milanizadeh Saman, Hiradfar Mehran, Abbaszadegan Mohammad Reza

Abstract excerpt

Background: Steroid-5α-reductase-2 (SRD5A2) and 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) enzyme deficiencies are frequent causes of 46, XY disorder of sex development (46, XY DSD), where an infant with 46, XY has a female phenotype. We assessed the hydroxy-steroid-17β-dehydrogenase-3 (HSD17B3)and SRD5A2 genes in twenty Iranian phenotypic females with 46,XY DSD. Materials and methods: All exons in...

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Identifiers

PMID: 32449406
DOI: 10.1080/15513815.2020.1745974

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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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