Endocrine characteristics in Bardet-Biedl syndrome from a large single-center pediatric multidisciplinary clinic
Authors' conclusion
This is the largest analysis of endocrine characteristics in pediatric patients with BBS. Short stature and obesity are characteristic of pediatric BBS. However, hypogonadism, hypothyroidism, and insulin resistance are less prevalent compared with adult BBS populations.
Study context
- Population
- Children and young people with genetically confirmed Bardet-Biedl syndrome (BBS), single multidisciplinary BBS service; 51% female, age 1.2 to 19.4 years
- Participants
- 135 children
- Outcome
- Prevalence of endocrine disorders and auxology outcomes
Methodological detailsretrospective analysis of prospectively collected data, single-centre, multidisciplinary service
- Retrospective analysis of prospectively collected data
- Single-centre
- Multidisciplinary service
Main finding
As reported in the abstract
Prevalence of endocrine disorders
- Short stature at age ≥15 years
- 21.1% (12/57)
- Obesity at age ≥15 years
- 77.6% (45/58)
- Raised TG
- 55.5% (66/119)
- Persistent primary or secondary hypogonadism; none required pubertal induction or sex steroid replacement
- 0
- Primary hypothyroidism
- 1.7% (2/121)
- SCH
- 0.8% (1/121)
- T1D
- 1.5% (2/135)
- T2D
- 2.2% (3/135)
- Impaired glucose tolerance
- 1.5% (2/135)
Observational data: associations, not effects.
Original publication
Endocrine characteristics in Bardet-Biedl syndrome from a large single-center pediatric multidisciplinary clinic. J Clin Endocrinol Metab. Published 27 April 2026. doi:10.
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