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Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2016

Hassan Heba Amin, Mazen Inas, Gad Yehia Zakaria, Ali Ola S M, Mekkawy Mona, Essawi Mona L

Abstract excerpt

This study aimed at the detection of HSD17B3 gene mutations in Egyptian patients with suspected diagnosis of 46,XY DSD due to 17-β-HSD-3 deficiency and at evaluation of phenotype/genotype relationship of these mutations. The study was conducted on 11 patients of 10 families which were provisionally diagnosed to have 17-β-HSD-3 enzyme deficiency. Karyotyping, hormonal evaluation of testosterone,...

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PMID: 27073926
DOI: 10.1159/000445311

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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