ESPE Abstracts

Background: Genomic imprinting is an epigenetic mechanism referring to the monoallelic silencing of genes according to their parental origin. Human chromosome 11p15.5 encompasses two imprinted domains (ICR1 and ICR2) playing an important role in controlling fetal and postnatal growth. Genetic (uniparental disomy or gain/loss of function mutations) or epigenetic alterations at the 11p15.5 imprinted region (loss or gain of DNA methylation) are associated with two clinical disord...

Background: Imprinting disease such as Prader-Willi syndrome (PWS) are associated with pathological sleep due to central and obstructive apneas. No data are available concerning Silver Russell syndrome (SRS) but most patients describe day asthenia and snoring. These patients also often present with maxillo-facial malformations.Aims and objectives: We wanted to characterise sleep in SRS and evaluate GH therapy possible effect on it....

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...

IGF2, a major actor which stimulates feta growth, is located within the imprinted 11p15 region, and 11p paternal duplications are usually associated with Beckwith Wiedemann syndrome, a rare condition usually associated with overgrowth. The IGF type 1 receptor binds both IGF-I and IGF-II to promotes cell proliferation and growth, and the IGF1R gene is located at chromosome 15q. Patients with deletions or mutations of IGF1R usually present with intraut...

Background: Prednisolone, prednisone, and hydrocortisone, are used during pregnancy, in women with thrombocytopenia, auto immune or inflammatory diseases. The current belief speculates on the absence of adverse effects on the hypothalamo-pituitary-adrenal (HPA) axis of the fetus, thanks to placental 11BHSD2 inactivation.Objective and Hypotheses: We analyzed the results of ATCH tests routinely performed in neonates expose...

Background: Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with very close phenotypic (prenatal and postnatal growth retardation, early feeding difficulties, early puberty) and molecular anomalies. Our objective was to describe the clinical overlap between SRS and TS and to extensively study the molecular aspects of patients with 14q32.2 molecular disru...

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...