P161: Exome sequencing of 3,118 individuals with variations in sexual characteristics

Genetics in Medicine Open 2026 Open access

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Authors: Leah Ragno, Tucker L. C. Pyle, Andrea Cohen, Kirsty M. McWalter, Paul Stephen Kruszka
DOI: 10.1016/j.gimo.2026.103655
Cited by: 0

Abstract

Variations in sexual characteristics (VSC) represent a heterogeneous group of congenital presentations that are often incompletely captured by standard phenotype classification systems. To improve phenotypic representation, we developed the Focused Genitourinary VSC (FGV) Glossary, a curated set of 103 Human Phenotype Ontology (HPO) terms encompassing medically defined VSCs/Differences of Sex Development (DSDs). We applied this glossary to a large clinical exome sequencing (ES) cohort to assess diagnostic yield, gene-level contribution, inheritance patterns, and phenotype distribution.

Fields of Study & Subjects

Sexual Differentiation and Disorders Genomics and Rare Diseases Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103655–103655
Publication date
1 January 2026
Language
EN