Endocrine Abstracts

Silver-Russell syndrome (SRS) is characterised by low birth weight, short stature, and feeding difficulties in childhood, with marked leanness also described. There is limited information on body composition in older people with SRS.

Objective: To evaluate body composition in adults with SRS.

Methods: Participants aged ≥18 years with molecularly-confirmed SRS attended a single study appointment. Body composition was evaluated using anthropometry and dual-energy x-ray absorptiometry (DXA) (Hologic Horizon W instrument, Hologic Inc, USA) and the SRS group was compared with men and women aged 19 to 63 years in the Southampton Women’s Survey, who are broadly representative of the general population. Continuous variables were compared using the Mann-Whitney U test or independent samples t-test as appropriate. The Chi-squared test was used to compare categorical variables.

Results: 25 (13 females) with a median age of 32.9 years (range 22.0-69.7). Loss of methylation at H19/IGF2 was diagnosed in 88%; maternal uniparental disomy for chromosome 7 in 12%. 60% had previously received GH. DXA scanning was performed in 19 participants. Individuals with SRS had a median height SDS of -3.13 (IQR -3.83 to -1.31); median weight SDS -1.83 (IQR -3.76 to -0.11); median BMI SDS -0.47 (IQR -1.83 to 1.53). Median waist-to-hip ratios in women and men were 0.826 and 0.932 respectively. Waist circumferences ≥80 cm in women and ≥94 cm in men were present in 36%. DXA results showed the following: trunk-to-limb fat was greater in SRS than unaffected individuals (medians 1.21 and 1.02 respectively, P = 0.03). Lean mass percentage (median 51.8% vs 66.2%) and lean mass index (mean 13.7 kg/m² vs17.3 kg/m²) were lower in SRS than unaffected individuals (both P < 0.001). Fat percentage was greater in SRS than unaffected individuals (44.45% vs 30.32%, P < 0.001).

Conclusions: Adults with SRS have lower lean mass, higher body fat percentage and greater central adiposity than unaffected adults. Large cohort studies suggest that this body composition profile is associated with increased cardio-metabolic risk in adulthood. Therefore, childhood management of SRS should aim to mitigate this potential risk in adulthood.