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Article

46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.

Clinical endocrinology - 1 Apr 2026

Yami Channaiah Chethan, Ravindra Shruthi, Sarathi Vijaya, Lila Anurag Ranjan, Valliyappan Soundaram, Karlekar Manjiri, Memon Saba Samad, Barnabas Rohit, Phadte Aditya, Sharma Anima, Bandgar Tushar

Abstract excerpt

OBJECTIVE: Gonadal dysgenesis (GD) due to NR0B1 duplication is a subset of 46,XY disorder of sexual differentiation (DSD) characterised by variable external genitalia phenotypes ranging from complete GD (CGD) to partial GD (PGD) and may have syndromic associations. The DSD-phenotype spectrum and its correlation with genotype have not been systematically studied. DESIGN: A systematic review of 46,XY GD with NR0B1...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41611635
DOI: 10.1111/cen.70104

Genes

NR0B1
PGD

Provenance

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