Background: Silver Russell syndrome (SRS) is characterized by low birth weight, severe postnatal short stature and distinctive facies. In ~50% of patients, (epi)genetic alterations can be detected (~40% hypomethylation of H19 on chromosome 11, ~10% maternal uniparental disomy (UPD) 7). As SRS patients are usually born small for gestational age (SGA), they are treated with GH to improve height. However, data on long-term effects of GH treatment in SRS patients are very limited.
Objective and hypotheses: To investigate the response to GH treatment in SRS vs non-SRS patients born SGA.
Method: The study population consisted of 38 GH-treated SRS patients (SRS) (n=8 H19 hypo-methylation, n=5 UPD7, n=25 clinical diagnosis (Netchine et al., 2006)) and 301 non-SRS patients born SGA (non-SRS). Height and weight gain after 1 year of GH and adult height were compared between SRS and non-SRS. All subjects were treated with GH 1 mg/m2 per day.
Results: Mean (S.D.) age at start of GH was 5.2 (2.17) years in SRS and 6.45 (2.13) in non-SRS (P=0.56). Mean height SDS increased in first year of GH with 1.0 SDS from −3.41 to −2.42 SDS vs 0.8 SDS from −2.99 to −2.17 SDS in non-SRS (P=0.006). Height gain was similar in genetically confirmed and clinical SRS. Weight for height SDS increased in first year of GH from −2.70 to −2.24 SDS in SRS vs −1.07 to −0.77 SDS in non-SRS (P=0.002). Mean adult height was −2.07 SDS in SRS vs −1.77 SDS in non-SRS (P=0.51). Distance to target height was 1.78 SDS in SRS vs 1.05 SDS in non-SRS (P=0.05).
Conclusion: SRS patients showed a better weight- and height gain in first year of GH than non-SRS patients and attained a similar adult height. Distance to target height was larger in SRS patients.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology