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Endocrine characteristics in Bardet-Biedl syndrome from a large single-center pediatric multidisciplinary clinic

Rachel S Varughese1, Divya Pujari1, Elizabeth Hatton2

  • 1Department of Endocrinology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.

The Journal of Clinical Endocrinology and Metabolism
|April 27, 2026
PubMed

Insights

Short stature and obesity are common in children with Bardet-Biedl syndrome (BBS), a rare genetic disorder. However, endocrine issues like hypogonadism and hypothyroidism are less frequent in pediatric cases compared to adults.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Bardet-Biedl syndrome (BBS) is a rare genetic ciliopathy with diverse clinical manifestations.
  • Endocrine complications, including obesity, short stature, and hypogonadism, are known associations of BBS.
  • The endocrine characteristics in pediatric BBS populations are not well-documented.

Purpose of the Study:

  • To analyze the endocrine characteristics of pediatric patients with genetically confirmed Bardet-Biedl syndrome.
  • To describe the prevalence of short stature, obesity, and other endocrine dysfunctions in this cohort.

Main Methods:

  • Retrospective analysis of prospectively collected data from a multidisciplinary BBS service.
  • Inclusion of 135 pediatric patients with genetically confirmed BBS.
  • Extraction of endocrine function data, including height, BMI, and metabolic markers.

Main Results:

  • Short stature was present in 21.1% and obesity in 77.6% of patients aged ≥15 years.
  • Elevated triglycerides were observed in 55.5% of patients.
  • Hypogonadism and hypothyroidism were less prevalent than expected, with no patients requiring hormonal intervention.

Conclusions:

  • Short stature and obesity are significant endocrine features in pediatric Bardet-Biedl syndrome.
  • Hypogonadism and hypothyroidism appear less common in pediatric BBS than in adult populations.
  • Further longitudinal studies are needed to understand the natural history of endocrine conditions in BBS across age groups.
Abstract

Keywords:
Bardet-Biedl syndromeendocrinehypogonadismobesitypediatricshort stature

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