There is little information on metabolic profiles and Body Composition in children with Silver-Russell syndrome (SRS).
Methods: 31 SRS patients [16 subjects with 11p15 loss of methylation (11pLOM) and 15 subjects with maternal uniparental disomy of chromosome 7 (mUPD7); mean age 7.4±4.3 years] and non-SRS subjects [34 small for gestational age (SGA), 13.4±2.7 years, and 44 appropriate for gestational age (AGA), 6.9 ± 1.4 years] were enrolled. All patients underwent a cross-sectional evaluation for anthropometrics, biochemical glucose [fasting blood insulin and glucose (FBG), Homeostatic Model Assessment for Insulin Resistance standard deviation (HOMAIR-SD)] and lipid (triglycerides and cholesterol) profiles; total body (TBLH) and lumbar spine (L1-L4) BMD Z-score, TB fat mass percentage (FM %) and limbs/TB fat ratio were measured by Dual-energy X-ray absorptiometry (DXA)
Main Results: Height SD in SRS (-2.1±1.2 SD) was significantly lower than AGA (0.02±1.3; p 0.001), but similar to SGA (-1.96±1.1 SD). Body Mass Index (BMI) was significantly lower in SRS (-1.6±1.2 SD) than in SGA (-0.7 ±1.2; p 0.04) and AGA (-0.1±1.1;p 0.003) groups and it was lower in SGA than in AGA (p 0.04). SRS children had higher fasting insulin (10.5±7 µU/ml) and HOMA-IR SD (0.72±1.8) than AGA (4.2±3.9 µU/ml; -0.7 ±1.3; P <0.001). In particular, children with 11p15LOM had a significantly higher FBG (92.5±7.5 mg/dl) than AGA (85±7 mg/dl; p 0.018). Similar results were found in SGA group, that showed higher insulin (14.5±9µU/ml;p 0.0001), FBG (91±13 mg/dl; p 003) levels and HOMA-IR SD (1.3±1.7; P <0.0001) than AGA. Glucose profile was not dissimilar in SRS and SGA. SRS (77.9±40.6 mg/dl; p 0.002) and SGA (76.2±34 mg/dl; p 0.001) groups showed higher triglycerides levels than AGA (53.5±21.3mg/dl). A significantly higher FM was found in SRS (27.5±6.8%) than AGA (22.9±9.5%; p 0.03); a higher lower limbs/total body fat ratio was found in AGA (0.44±0.04) than in SRS (0.4 ±0.05; p 0.0002) and in SGA (0.39± 0.07; p 0.0003). TBLH and L1-L4 BMD Z-score were significantly lower in SRS (-1.3±0.6, p 0.0001 and -0.85±1, p 0.01, respectively) and SGA groups (-1.7±2.8, p 0.0001 and -1.01±0.9, p 0.009) compared to AGA group (0.1±1.1 and -0.26±1.2, respectively).
Conclusions: BMI, glucose, lipid profiles and body composition assessments are mandatory in children with SRS. A higher FM% in SRS points toward sarcopenia.
22 Sep 2021 - 26 Sep 2021