Genetic and Clinical Characteristics of 185 Japanese Children With 46,XY Differences of Sex Development
Authors' conclusion
The proportion of monogenic disorders in Japanese 46,XY DSD patients was approximately 26%. Monogenic disorders were frequent among patients with severe undermasculinization of the external or internal genitalia.
Study context
- Population
- Japanese patients with 46,XY differences of sex development (DSD)178 families
- Participants
- 185 patients
- Outcome
- Proportion of monogenic disorders in 46,XY DSD
Methodological detailsgenetic study, 25-gene sequencing panel, ACMG guideline variant classification
- Genetic study
- 25-gene sequencing panel
- ACMG guideline variant classification
Main finding
As reported in the abstract
Monogenic disorders (pathogenic variants)
- Patients with any monogenic disorder
- 51 patients (47 families) (26%)
- AR
- 11%
- SRD5A2
- 4.5%
- NR5A1
- 4.0%
- SRY
- 2.8%
- WT1
- 1.1%
- STAR
- 1.1%
- CYP17A1
- 0.56%
- HSD3B2
- 0.56%
- MAP3K1
- 0.56%
Observational data: associations, not effects.
Further findings
Müllerian derivatives detected vs Müllerian derivatives undetected
Proportion of monogenic disorders by Müllerian derivatives · significantly higher with detected Müllerian derivatives
P = 0.029
Female-typical genitalia vs Ambiguous genitalia
Proportion of monogenic disorders by external genitalia · significantly higher with female-typical genitalia
P < 0.001
Original publication
Genetic and Clinical Characteristics of 185 Japanese Children With 46,XY Differences of Sex Development. J Clin Endocrinol Metab. Published 21 November 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →