Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome

Author:

Lokulo-Sodipe Oluwakemi12ORCID,Inskip Hazel M134ORCID,Byrne Christopher D14ORCID,Child Jenny5ORCID,Wakeling Emma L6ORCID,Mackay Deborah J G17ORCID,Temple I Karen18ORCID,Davies Justin H12ORCID

Affiliation:

1. Department of Human Development and Health, Faculty of Medicine, University of Southampton , Southampton, SO16 6YD , UK

2. Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust , Southampton, SO16 6YD , UK

3. MRC Epidemiology Unit, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK

4. NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK

5. Child Growth Foundation, c/o Kinnair Associates Limited , Aston House, Newcastle, NE5 1NB , UK (affiliation at the time of this work)

6. North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust , London, WC1N 3JH , UK

7. Wessex Regional Genetics Laboratory, Salisbury District Hospital , Salisbury, Wiltshire, SP2 8BJ, UK

8. The Wessex Clinical Genetics Service, University Hospitals Southampton NHS Foundation Trust, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK

Abstract

Abstract Context Low birth weight, as seen in Silver-Russell syndrome (SRS), is associated with later cardiometabolic disease. Data on long-term outcomes and adult body composition in SRS are limited. Objective To evaluate body composition and metabolic health in adults with SRS. Methods This was an observational study of 25 individuals with molecularly confirmed SRS, aged ≥ 18 years, from research facilities across the UK. Body composition and metabolic health were assessed at a single appointment. Individuals with SRS were compared with unaffected men and women (from the Southampton Women's Survey [SWS]). Fat mass, lean mass, bone mineral density (BMD), blood pressure, lipids, and blood glucose were measured. Results Twenty-five adults with SRS were included (52% female). The median age was 32.9 years (range, 22.0 to 69.7). Fat percentage was greater in the SRS group than the SWS cohort (44.1% vs 30.3%, P < .001). Fat mass index was similar (9.6 vs 7.8, P = .3). Lean mass percentage (51.8% vs 66.2%, P < .001) and lean mass index (13.5 kg/m2 vs 17.3 kg/m2, P < .001) were lower in the SRS group than the SWS cohort. BMD was lower in the SRS group than the SWS cohort (1.08 vs 1.24, P < .001; all median values). Total cholesterol was ≥ 5 mmol/L in 52.0%. Triglyceride levels were ≥ 1.7 mmol/L in 20.8%. Fasting blood glucose levels were ≥ 6.1 mmol/L in 25.0%. Hypertension was present in 33.3%. Conclusion Adults with SRS have an unfavorable body composition and predisposition to cardiometabolic disease. These results support the need for a health surveillance strategy to mitigate adverse outcomes.

Funder

Research for Patient Benefit (RfPB) Programme

Southampton NIHR Biomedical Research Centre, UK

Publisher

The Endocrine Society

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