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Life sciences · Journal article
Experimental and Therapeutic Medicine · September 16, 2026
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Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by extensive clinical heterogeneity, which often complicates its diagnosis.The present study reported the case of a 31-year-old woman who presented with longstanding, poorly controlled type 2 diabetes mellitus and its associated complications.The patient exhibited classic features including Class I obesity, retinal dystrophy, postaxial polydactyly, renal dysfunction and hypergonadotropic hypogonadism.A definitive diagnosis was established through whole-exome sequencing, which identified compound heterozygous pathogenic variants in the BBS10 gene (a nonsense mutation, p.Arg256 * and a missense mutation, p.Gly180Glu).This case is novel in presenting with adult-onset diabetes as the primary complaint, highlighting the necessity of including BBS in the differential diagnosis of patients with early-onset metabolic disorders and multisystem involvement.Of note, the patient's glycemic control improved after treatment with a glucagon-like peptide-1 receptor agonist (semaglutide).This observation provides important longitudinal evidence suggesting a promising therapeutic strategy for managing metabolic dysfunction in BBS, potentially by engaging residual G-protein-coupled receptor signaling pathways despite underlying ciliary defects.