Endocrine Characteristics in Bardet Biedl Syndrome from a Large Single-Centre Paediatric Multidisciplinary Clinic.

This study looked at hormone-related health issues in 135 children and teenagers with Bardet-Biedl Syndrome (BBS) at a specialized clinic. The researchers wanted to better understand what endocrine (hormone) problems actually occur in young people with BBS, since most previous information came from studies of adults. The main findings were that short stature (being shorter than expected) affected about 1 in 5 teenagers, and obesity was very common - found in about 3 out of 4 older teens. Most children also had high triglycerides (a type of fat in the blood). However, many hormone problems that are often mentioned with BBS were actually quite rare in these young patients. For example, problems with puberty development, thyroid issues, and diabetes were much less common than expected based on adult studies. This research is important because it gives parents and doctors a clearer picture of what to expect during childhood and teenage years with BBS. It suggests that some of the hormone problems associated with BBS may develop later in life rather than in childhood. The authors recommend following patients over many years to better understand when and how these issues develop, which could help with early detection and treatment planning.

Bardet-Biedl syndrome (BBS) is a rare genetic ciliopathy characterised 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. A retrospective analysis of prospectively collected data in paediatric 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 ≥4 years old and ≥15 years old. Short stature was defined as a height Z-score (standard deviation score, SDS) 1.6 SDS below the mid-parental height. 135 patients were included: 69 (51%) were female, ranging from 1.2-19.4 years old. At ≥15 years, 21.1% (12/57) had short stature and 77.6% (45/58) had obesity. On average, BMI 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. This is the largest analysis of endocrine characteristics in paediatric patients with BBS. Short stature and obesity are characteristic of paediatric BBS. However, hypogonadism, hypothyroidism, and insulin resistance are less prevalent compared with adult BBS populations. Longitudinal studies spanning paediatric and adult populations may further characterise the natural history of these endocrine conditions associated with BBS.