@article{discovery10069579,
           pages = {1834--1841},
         journal = {Journal of Clinical Endocrinology \& Metabolism},
           month = {May},
            note = {This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.},
          number = {5},
           title = {The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population},
            year = {2018},
          volume = {103},
            issn = {1945-7197},
        keywords = {Adolescent, Adult, Bardet-Biedl Syndrome, Body Mass Index, Case-Control Studies, Female, Hospitals, Humans, Insulin Resistance, Male, Metabolic Syndrome, Middle Aged, Obesity, Prevalence, Sample Size, Young Adult},
          author = {Mujahid, S and Hunt, KF and Cheah, YS and Forsythe, E and Hazlehurst, JM and Sparks, K and Mohammed, S and Tomlinson, JW and Amiel, SA and Carroll, PV and Beales, PL and Huda, MSB and McGowan, BM},
             url = {https://doi.org/10.1210/jc.2017-01459},
        abstract = {Context: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome. Objective: We describe the endocrine and metabolic characteristics of a large BBS population compared with matched control subjects. Design: We performed a case-control study. Setting: This study was performed at a hospital clinic. Patients: Study patients had a clinical or genetic diagnosis of BBS. Main Outcome Measurements: Our study determined the prevalence of a metabolic syndrome in our cohort. Results: A total of 152 subjects were studied. Eighty-four (55.3\%) were male. Mean ({$\pm$} standard deviation) age was 33.2 {$\pm$} 1.0 years. Compared with age-, sex-, and body mass index-matched control subjects, fasting glucose and insulin levels were significantly higher in subjects with BBS (glucose: BBS, 5.2 {$\pm$} 1.2 mmol/L vs control, 4.9 {$\pm$} 0.9 mmol/L, P = 0.04; insulin: BBS, 24.2 {$\pm$} 17.0 pmol/L vs control, 14.2 {$\pm$} 14.8 pmol/L, P {\ensuremath{<}} 0.001). Serum triglycerides were significantly higher in subjects with BBS (2.0 {$\pm$} 1.2 mmol/L) compared with control subjects (1.3 {$\pm$} 0.8 mmol/L; P {\ensuremath{<}} 0.001), but total cholesterol, high-density lipoprotein, and low-density lipoprotein were similar in both groups. Systolic blood pressure was higher in the BBS group (BBS, 135 {$\pm$} 18 mm Hg vs control subjects, 129 {$\pm$} 16 mm Hg; P = 0.02). Alanine transaminase was raised in 34 (26.8\%) subjects with BBS, compared with five (8.9\%) control subjects (P = 0.01). The rate of metabolic syndrome, determined using International Diabetes Federation criteria, was significantly higher in the BBS group (54.3\%) compared with control subjects (26\% P {\ensuremath{<}} 0.001). Twenty-six (19.5\%) of male subjects with BBS were hypogonadal (serum testosterone, 9.9 {$\pm$} 5.3 mmol/L), but significant pituitary abnormalities were uncommon. Subclinical hypothyroidism was present in 24 of 125 (19.4\%) patients with BBS, compared with 3 of 65 (4.6\%) control subjects (P = 0.01). Conclusions: Insulin resistance and the metabolic syndrome are increased in adult patients with BBS compared with matched control subjects. Increased subclinical hypothyroidism in the BBS cohort needs further investigation.}
}