Pediatric endocrinology

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

J Clin Endocrinol MetabPublished Observational study

Authors' 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.

Study context

Population
Adults aged ≥ 18 years with molecularly confirmed Silver-Russell syndrome (SRS), research facilities across the UK; 52% female, median age 32.9 years (range, 22.0 to 69.7)52% female
Participants
25 adults
Exposure
Adults with SRS vs unaffected men and women
  • SRSn = 25
Outcome
Body composition
Methodological detailssingle appointment assessment, comparison with SWS cohort
  • Single appointment assessment
  • Comparison with SWS cohort

Main finding

As reported in the abstract

Body composition SRS median 44.1% · SWS median 30.3%

Fat mass index SRS 9.6 · SWS 7.8 · P = 0.3

Lean mass percentage

P < 0.001

Lean mass index SRS 13.5 kg/m² · SWS 17.3 kg/m² · P < 0.001

BMD SRS 1.08 · SWS 1.24 · P < 0.001

  • SRS vs SWS: P < 0.001 — Fat percentage greater in SRS

Observational data: associations, not effects.

Further findings

Metabolic health in SRS

Total cholesterol ≥ 5 mmol/L
52.0%
TG ≥ 1.7 mmol/L
20.8%
Fasting blood glucose ≥ 6.1 mmol/L
25.0%
Hypertension
33.3%

Original publication

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome. J Clin Endocrinol Metab. Published 8 February 2024. doi:10.1210/clinem/dgae074

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