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Article

Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Jan 2017

Chauhan Vasundhera, Jyotsna Viveka P, Jain Vandana, Khadgawat Rajesh, Dada Rima

Abstract excerpt

46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunctional testes in genotypic males. The molecular etiology is not known in about 2 thirds of instances. The aim of this study was to identify the genetic cause in patients with 46,XY gonadal dysgenesis. Based on clinical, cytogenetic, and biochemical screening, 10 patients with 46,XY GD were recruited. Direct...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27711951
DOI: 10.1055/s-0042-114778

Genes

DMRT1
DHH
PGD
SOX9
SRY

Variants

Provenance

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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