{Reference Type}: Journal Article {Title}: Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome. {Author}: Lokulo-Sodipe O;Inskip HM;Byrne CD;Child J;Wakeling EL;Mackay DJG;Temple IK;Davies JH; {Journal}: J Clin Endocrinol Metab {Volume}: 0 {Issue}: 0 {Year}: 2024 Feb 8 {Factor}: 6.134 {DOI}: 10.1210/clinem/dgae074 {Abstract}: BACKGROUND: 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. 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)).
METHODS: Clinical research facilities across the UK.
METHODS: 25 individuals with molecularly-confirmed SRS aged ≥18 years.
METHODS: Fat mass, lean mass, bone mineral density (BMD), blood pressure, lipids, and blood glucose were measured.
RESULTS: 25 adults with SRS were included (52% female). The median age was 32.9 years (range 22.0-69.7). Fat percentage was greater in the SRS group than the SWS cohort (44.1% vs 30.3%, p<0.001). Fat mass index was similar (9.6 vs 7.8, p=0.3). Lean mass percentage (51.8% vs 66.2%, p<0.001) and lean mass index (13.5 kg/m2 vs 17.3 kg/m2, p<0.001) 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<0.001) (all median values). Total cholesterol was ≥5mmol/L in 52.0%. Triglyceride levels were ≥1.7mmol/L in 20.8%. Fasting blood glucose levels were ≥6.1mmol/L in 25.0%. Hypertension was present in 33.3%.
CONCLUSIONS: Adults with SRS have an unfavourable body composition and predisposition to cardiometabolic disease. These results support the need for a health surveillance strategy to mitigate adverse outcomes.