The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome.Describe the endocrine and metabolic characteristics of a large BBS population compared with matched controls.Case-control.Hospital clinic.A clinical/genetic d...
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
Oxford University Press
2018
|
| _version_ | 1826303202223456256 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Mujahid, S |
| collection | OXFORD |
| description | Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome.Describe the endocrine and metabolic characteristics of a large BBS population compared with matched controls.Case-control.Hospital clinic.A clinical/genetic diagnosis of BBS.None.Prevalence of metabolic syndrome.One hundred and fifty-two subjects were studied. Eight-four (55.3%) were male and mean (±SD) age was 33.2±1.0 years. Compared with age, gender and BMI matched controls, fasting glucose and insulin levels were significantly higher in BBS subjects (glucose: BBS: 5.2±1.2mmol/l vs control 4.9±0.9mmol/l, p=0.04; insulin: BBS: 24.2±17.0pmol/l vs control 14.2±14.8pmol/l, p<0.001). Serum triglycerides were significantly higher in BBS subjects (2.0±1.2mmol/l) compared with controls (1.3± 0.8mmol/l p<0.001) but total cholesterol/HDL/LDL were similar in both groups. Systolic blood pressure was higher in the BBS group (BBS 135±18 mmHg vs controls 129±16mmHg (p=0.02). Alanine transaminase (ALT) was raised in 34 (26.8%) BBS subjects, compared to 5 (8.9%) controls (p=0.01). The presence of a metabolic syndrome, using IDF criteria, was significantly higher in the BBS group (54.3%) compared to controls (26% p<0.001). Twenty-six (19.5%) of BBS males were hypogonadal (serum testosterone 9.9±5.3 mmol/l) but significant pituitary abnormalities were uncommon. Subclinical hypothyroidism was present in 24/125 (19.4%) patients with BBS compared with 3/65 (4.6%) controls (p=0.01).Insulin resistance and the metabolic syndrome are increased in adult BBS compared with matched controls. Increased subclinical hypothyroidism in the BBS cohort is a novel finding that needs further investigation. |
| first_indexed | 2024-03-07T05:59:05Z |
| format | Journal article |
| id | oxford-uuid:eb8bf8e8-7665-4d13-97db-b366fc94b32b |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:59:05Z |
| publishDate | 2018 |
| publisher | Oxford University Press |
| record_format | dspace |
| spelling | oxford-uuid:eb8bf8e8-7665-4d13-97db-b366fc94b32b2022-03-27T11:10:32ZThe endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic populationJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:eb8bf8e8-7665-4d13-97db-b366fc94b32bEnglishSymplectic Elements at OxfordOxford University Press2018Mujahid, SHunt, KFCheah, YSForsythe, EHazlehurst, JMSparks, KMohammed, STomlinson, JWAmiel, SACarroll, PVBeales, PLHuda, MSBMcGowan, BMBardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome.Describe the endocrine and metabolic characteristics of a large BBS population compared with matched controls.Case-control.Hospital clinic.A clinical/genetic diagnosis of BBS.None.Prevalence of metabolic syndrome.One hundred and fifty-two subjects were studied. Eight-four (55.3%) were male and mean (±SD) age was 33.2±1.0 years. Compared with age, gender and BMI matched controls, fasting glucose and insulin levels were significantly higher in BBS subjects (glucose: BBS: 5.2±1.2mmol/l vs control 4.9±0.9mmol/l, p=0.04; insulin: BBS: 24.2±17.0pmol/l vs control 14.2±14.8pmol/l, p<0.001). Serum triglycerides were significantly higher in BBS subjects (2.0±1.2mmol/l) compared with controls (1.3± 0.8mmol/l p<0.001) but total cholesterol/HDL/LDL were similar in both groups. Systolic blood pressure was higher in the BBS group (BBS 135±18 mmHg vs controls 129±16mmHg (p=0.02). Alanine transaminase (ALT) was raised in 34 (26.8%) BBS subjects, compared to 5 (8.9%) controls (p=0.01). The presence of a metabolic syndrome, using IDF criteria, was significantly higher in the BBS group (54.3%) compared to controls (26% p<0.001). Twenty-six (19.5%) of BBS males were hypogonadal (serum testosterone 9.9±5.3 mmol/l) but significant pituitary abnormalities were uncommon. Subclinical hypothyroidism was present in 24/125 (19.4%) patients with BBS compared with 3/65 (4.6%) controls (p=0.01).Insulin resistance and the metabolic syndrome are increased in adult BBS compared with matched controls. Increased subclinical hypothyroidism in the BBS cohort is a novel finding that needs further investigation. |
| spellingShingle | 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 The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population |
| title | The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population |
| title_full | The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population |
| title_fullStr | The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population |
| title_full_unstemmed | The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population |
| title_short | The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population |
| title_sort | endocrine and metabolic characteristics of a large bardet biedl syndrome clinic population |
| work_keys_str_mv | AT mujahids theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT huntkf theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT cheahys theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT forsythee theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT hazlehurstjm theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT sparksk theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT mohammeds theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT tomlinsonjw theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT amielsa theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT carrollpv theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT bealespl theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT hudamsb theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT mcgowanbm theendocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT mujahids endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT huntkf endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT cheahys endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT forsythee endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT hazlehurstjm endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT sparksk endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT mohammeds endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT tomlinsonjw endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT amielsa endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT carrollpv endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT bealespl endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT hudamsb endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation AT mcgowanbm endocrineandmetaboliccharacteristicsofalargebardetbiedlsyndromeclinicpopulation |