The Journal of clinical endocrinology and metabolism · 2026
Endocrine characteristics in Bardet-Biedl syndrome from a large single-center pediatric multidisciplinary clinic.
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Varughese Rachel S, Pujari Divya, Hatton Elizabeth, Dyakova Theodora, Sparks Kathryn, Flack Sarah, Dastamani Antonia, Katugampola Harshini, McGlacken-Byrne Sinead, Peters Catherine, Schoeneberg Dillon, Whitehead Jennifer, Forsythe Elizabeth, Beales Philip L, Chesover Alexander D
Аннотация
CONTEXT: Bardet-Biedl syndrome (BBS) is a rare genetic ciliopathy characterized by obesity, rod-cone dystrophy, polydactyly, hypogonadism, cognitive impairment, and renal abnormalities. Additional endocrine associations include short stature and hypothyroidism. The endocrine characteristics in children are not well described.
OBJECTIVE: The aim of this study was to describe the prevalence of endocrine disorders and to characterize auxology outcomes in children and young people with BSS from a large pediatric cohort at a single-center multidisciplinary service.
METHODS: A retrospective analysis of prospectively collected data in pediatric patients with genetically confirmed BBS from a single multidisciplinary BBS service. Data related to endocrine function were extracted from the electronic patient record. Height was reported for patients age 4 years or older and 15 years or older. Short stature was defined as a height z score (SD score, SDS) less than -2 or height greater than 1.6 SDS below the midparental height.
RESULTS: A total of 135 patients were included: 69 (51%) were female, ranging from age 1.2 to 19.4 years. At age 15 years or older, 21.1% (12/57) had short stature and 77.6% (45/58) had obesity. On average, body mass index worsened over time. Triglycerides were raised in 55.5% (66/119). No patients demonstrated biochemical or clinical evidence of persistent primary or secondary hypogonadism, and none required pubertal induction or sex steroid replacement therapy. Primary hypothyroidism and subclinical hypothyroidism were identified in 1.7% (2/121) and 0.8% (1/121), respectively. Type 1 diabetes, type 2 diabetes, and impaired glucose tolerance were identified in 1.5% (2/135), 2.2% (3/135), and 1.5% (2/135), respectively.
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. Longitudinal studies spanning pediatric and adult populations may further characterize the natural history of these endocrine conditions associated with BBS.
OBJECTIVE: The aim of this study was to describe the prevalence of endocrine disorders and to characterize auxology outcomes in children and young people with BSS from a large pediatric cohort at a single-center multidisciplinary service.
METHODS: A retrospective analysis of prospectively collected data in pediatric patients with genetically confirmed BBS from a single multidisciplinary BBS service. Data related to endocrine function were extracted from the electronic patient record. Height was reported for patients age 4 years or older and 15 years or older. Short stature was defined as a height z score (SD score, SDS) less than -2 or height greater than 1.6 SDS below the midparental height.
RESULTS: A total of 135 patients were included: 69 (51%) were female, ranging from age 1.2 to 19.4 years. At age 15 years or older, 21.1% (12/57) had short stature and 77.6% (45/58) had obesity. On average, body mass index worsened over time. Triglycerides were raised in 55.5% (66/119). No patients demonstrated biochemical or clinical evidence of persistent primary or secondary hypogonadism, and none required pubertal induction or sex steroid replacement therapy. Primary hypothyroidism and subclinical hypothyroidism were identified in 1.7% (2/121) and 0.8% (1/121), respectively. Type 1 diabetes, type 2 diabetes, and impaired glucose tolerance were identified in 1.5% (2/135), 2.2% (3/135), and 1.5% (2/135), respectively.
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. Longitudinal studies spanning pediatric and adult populations may further characterize the natural history of these endocrine conditions associated with BBS.