Beyond Obesity: Diagnostic Challenges of Bardet–Biedl Syndrome
https://doi.org/10.15605/jafes.041.S1
- Author:
Shahidatul Munirah Mohammad Salihhuddin
1
;
Suhaimi Hussain
2
Author Information
1. Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia;Faculty of Medicine, Universiti Sultan Zainal Abidin
2. Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia
- Publication Type:Journal Article
- MeSH:
Bardet-Biedl Syndrome;
Obesity
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):146-147
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Bardet-Biedl Syndrome is a rare autosomal recessive
disorder characterized by multisystem manifestations, such
as early-onset obesity, hypogonadotropic hypogonadism,
retinal dystrophy, polydactyly, renal anomalies and intellectual disability. Phenotypic variability makes diagnosis
challenging. Central obesity and hypogonadotropic hypogonadism are frequently observed, but often overlooked.
Case:We report a 12-year-old male who was referred at the age of
10 years for evaluation of central obesity and buried penis.
He was born at term with birth weight of 3,200 g. Both parents
were non-consanguineous, and antenatal history was
unremarkable. Early-onset excessive weight gain was noted
from infancy, with hyperphagia during early childhood. His weight remained persistently above the 95th centile,
and height around the 90th centile, slightly exceeding midparental height expectations. Buried penis was identified at
birth. Polydactyly is absent. He also demonstrates learning
difficulties. Early diagnostic considerations include
Klinefelter syndrome due to buried penis, and PraderWilli Syndrome due to central obesity with co-existence of
learning difficulties. Further evaluation excluded PraderWilli Syndrome, and conventional karyotyping ruled out
Klinefelter syndrome. Clinical assessment revealed prepubertal Tanner stage, bilaterally palpable testes (3 mL),
and a stretched penile length <2 cm. Endocrine evaluation
demonstrated a prepubertal response to LHRH stimulation,
and poor testosterone response to hCG, suggesting hypogonadotropic hypogonadism with poor Leydig cell
function. Whole exome sequencing confirmed a BBS2
gene mutation, establishing the diagnosis of Bardet-Biedl
Syndrome. This mutation disrupts hypothalamic signaling,
leading to the multisystem involvement observed. Over the
follow-up period, he reported difficulty with night vision.
Conclusion:Not all syndromic obesity is immediately apparent—
Bardet-Biedl Syndrome should be considered even in the
absence of classical features. Marked phenotypic variability often leads to delayed diagnosis, highlighting the need
for vigilant clinical suspicion and prompt genetic study
to ensure timely recognition. Early recognition is critical,
as endocrine and other associated complications can
significantly impact long-term health.
- Full text:2026081017305563148EP_P024.pdf
