Observational studyThe Journal of clinical endocrinology and metabolism2025
Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome.
Observational study in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.Diabetology & metabolic syndrome · 2025Article
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Authors and funding
19 authors.
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Abstract
contextAlström syndrome (AS) has been extensively studied for its multisystem organ manifestations. Primary gonadal failure is well described in humans, but little is known about the intricacies of puberty and true incidence of hypogonadism within this population.
objectiveWe aimed to define the onset and progression of puberty and the incidence of hypogonadism in male patients with AS.
methodsA retrospective, observational cohort study was conducted on patients with AS across the UK and Italy national services. Additionally, the findings were correlated with Alms1 S701X mouse model as part of the current study.
resultsWe enrolled 28 pediatric patients (age 14.8 ± 2.3) and 41 adult patients (age 34 ± 12). All pediatric patients entered puberty at an appropriate age, but the highest testicular volume achieved by patients with AS was 9 ± 3 mL in age group of 14- to 15-year-old boys. Among adults, 95% (39/41) had hypogonadism with primary gonadal failure. Testicular analysis of the Alms1 S701X mouse model shows testicular atrophy with no evidence of fibrosis. Moreover, Alms1 S701X mice exhibit reduced sperm count and sperm motility compared with controls (29.03 × 106/mL vs 110.6 × 106/mL, 34.77% vs 70.18%).
conclusionOur 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.
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