46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review
Authors' conclusion
46,XY GD phenotype with NR0B1 duplication does not correlate with duplicated segment size. A delineated spectrum of gonadal dysfunction, gender identity, fertility, and gonadal malignancy risk presented here can help to optimise patient management.
Study context
- Population
- 46,XY gonadal dysgenesis (GD) with NR0B1 duplication, including two patients from the authors' centre
- Participants
- 47 participants
- Comparison
- Large vs submicroscopic NR0B1 duplications
- Outcome
- Disorder of sexual differentiation (DSD) phenotypes and their genotypic correlations
Pooled result
As reported in the abstract
- Large duplications
- 61.7%
- Submicroscopic duplications
- 38.3%
- Maternal inheritance (asymptomatic carriers, except one)
- 63.3%
- Median age at presentation, years (range)
- 1.0 (birth to 38)
- Presentation due to syndromic manifestations
- 55.3%
- Presentation due to gonadal dysfunction-related symptoms
- 42.5%
- Complete GD (CGD)
- 66%
- Partial GD (PGD)
- 27.7%
- Typical male genitalia
- 6.4%
Safety
Gonadal tumours
- Gonadoblastoma (median age 11 years)
- 17%
- Gonadal germ cell cancer (15 years of age)
- 2.1%
Original publication
46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review. Clin Endocrinol (Oxf). Published 29 January 2026. doi:10.
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