Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome
Authors' conclusion
Our study sheds light on the reproductive aspects of AS across pediatric and adult populations with particular emphasis on testicular and pubertal development, and hypogonadism in adult life. Although, all the pediatric patients with AS have age-appropriate onset of puberty, almost all exhibit hypogonadism with primary gonadal failure as adults. This mirrors the Alms1 S701X mouse model.
Study context
- Population
- Male patients with Alström syndrome (AS), UK and Italy national services
- Participants
- 28 vs 41
- Exposure
- Pediatric vs Adult
- Pediatricn = 28
- Adultn = 41
- Outcome
- Onset and progression of puberty and incidence of hypogonadism
Methodological detailsobservational, multinational (UK and Italy national services), with Alms1 S701X mouse model correlation
- Observational
- Multinational (UK and Italy national services)
- With Alms1 S701X mouse model correlation
Main finding
As reported in the abstract
Adult
95%
39 of 41
- Highest testicular volume, boys aged 14–15 years
- 9 ± 3 mL
- Adults with hypogonadism with primary gonadal failure
- 95% (39/41)
Observational data: associations, not effects.
Further findings
Alms1 S701X mouse model: testicular analysis
- Reduced sperm count vs controls
- 29.03 × 106/mL vs 110.6 × 106/mL
- Reduced sperm motility vs controls
- 34.77% vs 70.18%
- Testicular atrophy with no evidence of fibrosis
Original publication
Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome. J Clin Endocrinol Metab. Published 13 June 2025. doi:10.
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