P264: Phenotypic and genotypic diversity in disorders of sex development: Insights from a 10-year cohort study

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Phoenix Wang, Xinxiu Xu, Suné van Wyk, Yutaka Furuta, Angela R. Grochowsky, Bryce A. Schuler, Erica T. Gray, Karee Morgan, Ayaka Sugiura, Rebecca Smith, Ashwini K. Yenamandra, John Phillips
+1 more Meng-Chang Hsiao
DOI: 10.1016/j.gimo.2026.103758
Cited by: 0

Abstract

Disorders of sex development (DSDs) encompass conditions marked by discordance among chromosomal, gonadal, and phenotypic sex. In 46,XX individuals with male phenotypes (46,XX DSD), approximately 80% are due to translocation of the SRY gene, typically to the X chromosome. SRY-negative cases may involve overexpression of testis-promoting genes (eg, DMRT1, FGF9, SOX3) or reduced expression of ovarian-promoting genes (eg, WNT4, RSPO1, NR2F2). Conversely, 46,XY DSD often results from pathogenic variants in testis development genes, with SRY pathogenic variants accounting for ∼15% of cases.

Fields of Study & Subjects

Sexual Differentiation and Disorders Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Urological Disorders and Treatments

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103758–103758
Publication date
1 January 2026
Language
EN