The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population

Safa Mujahid; Katharine F Hunt; Yee S Cheah; Elizabeth Forsythe; Jonathan M Hazlehurst; Kathryn Sparks; Shehla Mohammed; Jeremy W Tomlinson; Stephanie A Amiel; Paul V Carroll; Phillip L Beales; Mohammed S B Huda; Barbara M Mcgowan

doi:10.1210/jc.2017-01459

The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population

Safa Mujahid, Katharine F Hunt, Yee S Cheah, Elizabeth Forsythe, Jonathan M Hazlehurst, Kathryn Sparks, Shehla Mohammed, Jeremy W Tomlinson, Stephanie A Amiel, Paul V Carroll, Phillip L Beales, Mohammed S B Huda, Barbara M Mcgowan

Metabolism and Systems Research

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

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 (± 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).

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.

Original language	English
Pages (from-to)	1834–1841
Number of pages	8
Journal	The Journal of clinical endocrinology and metabolism
Volume	103
Issue number	5
Early online date	1 Feb 2018
DOIs	https://doi.org/10.1210/jc.2017-01459
Publication status	Published - 1 May 2018

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Mujahid, S., Hunt, K. F., Cheah, Y. S., Forsythe, E., Hazlehurst, J. M., Sparks, K., Mohammed, S., Tomlinson, J. W., Amiel, S. A., Carroll, P. V., Beales, P. L., Huda, M. S. B., & Mcgowan, B. M. (2018). The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population. The Journal of clinical endocrinology and metabolism, 103(5), 1834–1841. https://doi.org/10.1210/jc.2017-01459

@article{456280098d2e43f5aef2c8258fb839ea,

title = "The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population",

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 (± 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). 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.",

author = "Safa Mujahid and Hunt, {Katharine F} and Cheah, {Yee S} and Elizabeth Forsythe and Hazlehurst, {Jonathan M} and Kathryn Sparks and Shehla Mohammed and Tomlinson, {Jeremy W} and Amiel, {Stephanie A} and Carroll, {Paul V} and Beales, {Phillip L} and Huda, {Mohammed S B} and Mcgowan, {Barbara M}",

year = "2018",

month = may,

day = "1",

doi = "10.1210/jc.2017-01459",

language = "English",

volume = "103",

pages = "1834–1841",

journal = "The Journal of clinical endocrinology and metabolism",

issn = "0021-972X",

publisher = "Endocrine Society",

number = "5",

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Mujahid, S, Hunt, KF, Cheah, YS, Forsythe, E, Hazlehurst, JM, Sparks, K, Mohammed, S, Tomlinson, JW, Amiel, SA, Carroll, PV, Beales, PL, Huda, MSB & Mcgowan, BM 2018, 'The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population', The Journal of clinical endocrinology and metabolism, vol. 103, no. 5, pp. 1834–1841. https://doi.org/10.1210/jc.2017-01459

TY - JOUR

T1 - The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population

AU - Mujahid, Safa

AU - Hunt, Katharine F

AU - Cheah, Yee S

AU - Forsythe, Elizabeth

AU - Hazlehurst, Jonathan M

AU - Sparks, Kathryn

AU - Mohammed, Shehla

AU - Tomlinson, Jeremy W

AU - Amiel, Stephanie A

AU - Carroll, Paul V

AU - Beales, Phillip L

AU - Huda, Mohammed S B

AU - Mcgowan, Barbara M

PY - 2018/5/1

Y1 - 2018/5/1

N2 - 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 (± 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). 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.

AB - 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 (± 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). 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.

U2 - 10.1210/jc.2017-01459

DO - 10.1210/jc.2017-01459

M3 - Article

SN - 0021-972X

VL - 103

SP - 1834

EP - 1841

JO - The Journal of clinical endocrinology and metabolism

JF - The Journal of clinical endocrinology and metabolism

IS - 5

ER -

The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population

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