Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD
Authors' conclusion
In young adulthood, biochemical evidence of primary gonadal insufficiency is present in the majority of males and females with T-DSD and OT-DSD. In males with OT-DSD, micropenis may persist in young adulthood despite normal testosterone concentration.
Study context
- Population
- Cases of testicular disorders/differences of sex development (T-DSD) and OT-DSD from 20 centers across 13 countries in the I-DSD Registry20 centers · 13 countries
- Participants
- 29 vs 32
- Exposure
- T-DSD vs OT-DSD
- T-DSDn = 29
- OT-DSDn = 32
- Outcome
- Gonadal outcome
Methodological detailsmulticentre, international
- Multicentre
- International
Main finding
As reported in the abstract
Gonadal function in adolescents and adults
- Spontaneous puberty, males aged >14 years
- 7/14 (50%)
- Spontaneous puberty, females aged >14 years
- 2/4 (50%)
- Serum gonadotropins above reference range, male adolescents and adults
- 8/9 (89%)
- Serum gonadotropins above reference range, female adolescents and adults
- 1/2 (50%)
- Serum testosterone within reference range, males
- 8/9 (89%)
Observational data: associations, not effects.
Further findings
Male registration at birth
SPL in adolescent boys · adolescence
P < 0.05
- Male registration at birth — Sex reassignment among 42 registered male
- 0
- Male registration at birth — T-DSD registered female reassigned within first year of life (of 17 registered female)
- 2
Stretched penile length (SPL) <5th centile in male infants · infancy
- SPL <5th centile; similar in T-DSD and OT-DSD
- 11/15 (73%)
Safety
Gonadal tumors · median age 11.3 years (1 month, 35.5 years)
- Gonadal tumors reported in 34 cases with available data
- 0
Original publication
Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD. J Clin Endocrinol Metab. Published 3 November 2025. doi:10.
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