Background: Silver-Russell syndrome (SRS) is reported to be associated with early adrenarche, but substantial studies are lacking.
Objective and hypotheses: We aimed to determine the median age at onset of adrenarche, the prevalence of premature adrenarche as well as its causes and consequences.
Method: Currently we have collected longitudinal data from 40 children with SRS seen during the last 20 years in our centre. The patients fulfilled ≥4 of the following criteria: SGA, failure to thrive, short stature, relative macrocephaly, prominent forehead or skeletal asymmetry. Maternal uniparental disomy of chromosome 7 was present in 3 patients, 11p15 loss of methylation in 9 patients, structural chromosomal aberrations outside of 11p15 in 2 patients, 12 patients were negative and 14 patients were incompletely tested. Out of the 40 patients, 33 were treated with GH. Age at adrenarche was defined as the first time point when serum DHEAS was >500 ng/ml or pubarche (PH2) began. Start of adrenarche before 8/9 years of age (girls/boys) was defined to be premature. DHEAS was measured by the same chemiluminescence immunoassay during the full study period.
Results: The median age at onset of adrenarche was 8.2 years in females (range, 6.110.1) (n=8) and 9.8 years in males (range, 6.112.2)(n=19). Within the total group, 44% (12/27) had premature adrenarche. The predictor of premature adrenarche was birth weight (P=0.011), but not birth length, sex, BMI or height SDS at 2 years of age (n=27). Based on the current data a deleterious effect of early adrenarche on the outcome of GH therapy was not detectable.
Conclusions: Premature adrenarche was frequent and predictable by birth weight, but not by birth length, sex, height or BMI at 2 years of age. The collection of longitudinal data of additional SRS patients is necessary to analyse consequences for metabolism and growth.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology