1. The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population
- Author
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Mohammed S.B. Huda, Elizabeth Forsythe, Shehla Mohammed, Barbara McGowan, Paul V. Carroll, Stephanie A. Amiel, Jonathan Hazlehurst, Safa Mujahid, P. Beales, Jeremy W. Tomlinson, Kathryn Sparks, Katharine F. Hunt, and Yee S Cheah
- Subjects
0301 basic medicine ,Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Clinical Biochemistry ,Population ,030105 genetics & heredity ,Biochemistry ,Body Mass Index ,03 medical and health sciences ,Young Adult ,Endocrinology ,Internal medicine ,medicine ,Prevalence ,Humans ,Obesity ,education ,Bardet-Biedl Syndrome ,Subclinical infection ,Metabolic Syndrome ,education.field_of_study ,biology ,business.industry ,Insulin ,Biochemistry (medical) ,Middle Aged ,medicine.disease ,Hospitals ,030104 developmental biology ,Blood pressure ,Alanine transaminase ,Case-Control Studies ,Sample Size ,Cohort ,biology.protein ,Female ,Metabolic syndrome ,Insulin Resistance ,business - Abstract
ContextBardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome.ObjectiveWe describe the endocrine and metabolic characteristics of a large BBS population compared with matched control subjects.DesignWe performed a case-control study.SettingThis study was performed at a hospital clinic.PatientsStudy patients had a clinical or genetic diagnosis of BBS.Main Outcome MeasurementsOur study determined the prevalence of a metabolic syndrome in our cohort.ResultsA total of 152 subjects were studied. Eighty-four (55.3%) were male. Mean (± standard deviation) age was 33.2 ± 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 ± 1.2 mmol/L vs control, 4.9 ± 0.9 mmol/L, P = 0.04; insulin: BBS, 24.2 ± 17.0 pmol/L vs control, 14.2 ± 14.8 pmol/L, P < 0.001). Serum triglycerides were significantly higher in subjects with BBS (2.0 ± 1.2 mmol/L) compared with control subjects (1.3 ± 0.8 mmol/L; P < 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 ± 18 mm Hg vs control subjects, 129 ± 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 < 0.001). Twenty-six (19.5%) of male subjects with BBS were hypogonadal (serum testosterone, 9.9 ± 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).ConclusionsInsulin 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.
- Published
- 2018
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