Contribution of Clinical and Biological Mini-Puberty and Genetic Analysis in 57 46,XY Differences of Sex Development: A Monocentric Retrospective Cohort
Authors' conclusion
This study proposes a less invasive diagnostic approach for 46,XY DSD children with palpable gonads at birth; it seems a single blood test around the second month of life for comprehensive analysis.
Study context
- Population
- Children with 46,XY differences of sex development (DSD) born September 2010–August 2022 with mini-puberty hormone measurements and an NGS DSD gene panel
- Participants
- 57 children
- Exposure
- 46,XY DSD with vs without a genetic diagnosis
- Outcome
- Clinical data and hormone levels during mini-puberty in patients with vs without a genetic diagnosis
- Follow-up
- Mini-puberty
Methodological detailsmonocentric
- Monocentric
Main finding
As reported in the abstract
Mini-puberty hormone levels
- Variations in AMH, inhibin B, FSH and LH levels, with specific patterns in certain DSD conditions
Observational data: associations, not effects.
Secondary outcomes
Genetic diagnostic yield
- Diagnostic yield of genetic testing
- 49%
Hormone levels at 2 months associated with genetic diagnosis · 2 months of life
- FSH >4 IU/L, AMH <235 pmol/L and inhibin B <189 pg/mL associated with higher probability of a genetic diagnosis
Original publication
Contribution of Clinical and Biological Mini-Puberty and Genetic Analysis in 57 46,XY Differences of Sex Development: A Monocentric Retrospective Cohort. Horm Res Paediatr. Published 17 January 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →