Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis
Authors' conclusion
This study highlights the heterogeneous phenotype of PGD and the consequent diagnostic challenge. Many PGD patients with preserved gonads have the potential to develop puberty spontaneously, though further study is needed to determine the risk of developing gonadal tumors.
Study context
- Population
- Patients with 46,XY gonadal dysgenesis from the I-DSD Registry
- Participants
- 100 / 107 / 103
- Exposure
- CGD vs PGD assigned female vs PGD assigned male
- CGDn = 100reference
- PGDfn = 107
- PGDmn = 103
- Outcome
- Clinical features and pubertal outcome of PGD
Methodological detailsI-DSD Registry
- I-DSD Registry
Main finding
As reported in the abstract
- PGDf presenting with delayed puberty
- 18%
- PGDf presenting with virilization
- 8%
- PGDm (>13 years) with ≥1 gonad: spontaneous pubertal onset
- 80%
- PGDm (>13 years) with ≥1 gonad: Tanner G5 without hormone treatment
- 59%
- PGDf with gonads: spontaneous virilization at puberty
- 42%
Observational data: associations, not effects.
Further findings
Gonadal pre-/malignancy
| Outcome | CGD | PGDf | PGDm |
|---|---|---|---|
| Sex reassigned | — not stated in the abstract | 16.1% | 5.3% |
— not stated in the abstract
Genetic etiology identified
- Whole cohort
- 42%
- Common gene defects: SRY and WT1 in CGD; NR5A1 in PGD
Original publication
Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis. J Clin Endocrinol Metab. Published 10 April 2025. doi:10.
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