Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome

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.

Design: 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)).

Setting: clinical research facilities across the UK.

Participants: 25 individuals with molecularly-confirmed SRS aged ≥18 years.

Main outcome measures: 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
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.

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Identifiers

ORCID for Oluwakemi Lokulo-Sodipe: orcid.org/0000-0002-8169-3384

ORCID for Hazel M. Inskip: orcid.org/0000-0001-8897-1749

ORCID for Christopher D. Byrne: orcid.org/0000-0001-6322-7753

ORCID for Deborah J.G. Mackay: orcid.org/0000-0003-3088-4401

ORCID for I. Karen Temple: orcid.org/0000-0002-6045-1781

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