ESPE Abstracts

Objective: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by severe intrauterine and postnatal growth retardation and feeding difficulties. Patients can benefit from recombinant growth hormone (rGH) therapy which has shown its positive effect on adult height. Our objective was to assess the short-term effects of rGH therapy on growth and nutritional status in prepubertal patients with SRS.Design: Retrospective anal...

Background: Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The major abnormality is the hypomethylation of paternal allele of 11p15 imprinting centre region 1. In 10% of cases a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. Speech delay and learning difficulties have been reported in these patients.Objective and hypothes...

Introduction: Pseudohypoparathyroidism (hereafter named iPPSD for inactivating PTH/PTHrP Disorder) is a rare disease characterized by hormonal resistance including PTH, subcutaneous ossifications, short stature, brachymetacarpy and early onset obesity. iPPSD type 2 and 3 are caused by genetic or epigenetic variations in the GNAS gene or its promoters. Although uncommon features have been identified such as severe asthma or sleep apnea, digestive manifestations...