Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency
Authors' conclusion
A significant percentage of individuals with 17β-HSDD and 5α-RD changed gender, and some were treated with GnRHa to prevent virilisation before making a definitive decision about gonadectomy. When left in situ, spontaneous puberty occurs and germ cell (pre)malignancies seem uncommon at least until early adulthood. Together, these data support delaying a decision about gonadectomy until late adolescence in these conditions.
Study context
- Population
- Patients aged ≥16 years with genetically confirmed 17β-HSDD or 5α-RD (46,XY differences of sex development (DSD)), 10 centres via the I-DSD Registry
- Participants
- 16 vs 14
- Exposure
- 17β-HSDD vs 5α-RD
- 17β-HSDDn = 16
- 5α-RDn = 14
- Outcome
- Long-term gonadal function and gonadal pathology
Methodological detailsmulticentre, I-DSD Registry
- Multicentre
- I-DSD Registry
Main finding
As reported in the abstract
Gender, gonadectomy and gonadal pathology
- 17β-HSDD: raised female
- All 16
- 17β-HSDD: changed to male gender at age 14
- 1 (6%)
- 17β-HSDD: treated with gonadotrophin-releasing hormone agonists (GnRHa) to prevent virilisation
- 3
- 17β-HSDD: gonadectomy, median age 8 (range 0-17)
- 13
- 17β-HSDD: germ cell (pre)malignancies
- 0
- 5α-RD: raised female
- 10 (71%)
- 5α-RD: changed gender at age 7-23 (4 to male)
- 5
- 5α-RD: treated with GnRHa
- 1
- 5α-RD: gonadectomy, median age 10 (range 0-31)
- 6
- 5α-RD: germ cell (pre)malignancies
- 0
- 5α-RD: treated with dihydrotestosterone
- 3
Observational data: associations, not effects.
Original publication
Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency. Eur J Endocrinol. Published 9 January 2025. doi:10.
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