Endocrine Abstracts

Introduction: Bardet–Biedl syndrome (BBS) is a rare genetic ciliopathy with a prevalence of 1 in 160,000 in Europeans and 1 in 13,500 in some Arab populations The primary clinical features of BBS include retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism. Traditionally, BBS is clinically diagnosed when a patient shows 4 primary features

Case report: 17 year old male, single, worker, presented to our endocrine clinic complaining of delayed puberty short stature and poor vision, especially at night. He was third of Four siblings born of consanguineous marriage. Childhood details could not be elucidated except for poor mental milestones and scholastic performance. His vision was poor since childhood at the age of 5, and had deteriorated recently especially at night. Tonsillectomy and adenoidectomy at age of 8. Physical examination: Clinical findings included height: 141 cm (upper segment, 60 and lower segment, 80), weight 58.8 kg (body mass index: 29.74 kg/m²), waist circumference: 92 cm. He had 22 digits with syndactyly of second and third toes bilaterally. Genitalia examination revealed pubic hair: Tanner stage 1, genitalia stage 2; stretched phallic length: 2 cm and testicular volume 6 ml bilaterally. No gynecomastia. Normal Systemic examination. Laboratory work up showed normal complete blood picture, liver enzymes, creatinine,BUN follicle-stimulating hormone: 3 mIU/ml (N: 0.7–11.1), Luteinizing hormone: 1.4 mIU/ml (N: 0.8–7.6), testosterone 0.5 ng/ml (N: 2.5–8.4 mg/ml). Fundus examination showed atypical retinitis pigmentosa with vascular attenuation and salt–pepper type changes in both. Electroretinogram (ERG) showed grossly reduced amplitudes. Suggesting peripheral rod–cone dysfunction. His elder brother 21 years old, obese BMI: 35.95, he had learning difficulties and quit school, diminution of vision since childhood especially at night, polydactyl, evidence of virilization with small penile size (SPL: 8 cm).

Conclusion: BBS demonstrates highly variable expression, even among affected siblings, making the diagnosis difficult and often delayed. There is no definitive treatment method for BBS. Complications related to BBS Should be treated symptomatically. A multidisciplinary management approach may be required in patients with BBS.