ESPE Abstracts

Background: Silver Russell syndrome (SRS) is an imprinting defect disease.Objective: To study clinical characteristics and imprinting defects in Chinese children with SRS.Methods: Forty-nine SRS cases were studied retrospectively. Out of these 49 cases, 36 were available to be detected chromosome 11p15 imprinting defects and 21 cases were detected uniparental disomy of maternal chromosome 7 (UPD(7) mat).Resul...

Background: Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterised by pre- and postnatal growth failure, relative macrocephaly, triangular face, hemihypotrophy, and fifth finger clinodactyly. Hypomethylation of the H19-DMR and maternal uniparental disomy chromosome 7 (UPD(7)mat) were identified in about 30 and 10% of SRS patients respectively. Genetic causes of the remaining 60% of the patients are unknown. Growth failure, small hands, and hypo...

Background: Nearly half of SRS epigenetic etiology is unknown. Effect of GH in SRS is not exact.Objective: To determine novel gene or imprinted gene associated with pathogenicity of Silver–Russell syndrome (SRS) through detection genome-wide methylation differences. To observe GH efficacy in SRS and the relationship between GH and epigenetic changes.Method: To detect genome-wide methylation site through the Illumina 450K methy...

Context: Silver-Russell syndrome (SRS) is a rare imprinting disorder responsible for foetal and postnatal growth restriction. It is a clinical diagnosis based on Netchine-Harbison clinical scoring system in patients presenting with ≥ 4 items out of 6. Some of the items in this score are not assessable until the age of two years, such as growth retardation or feeding difficulties and body asymmetry can be difficult to identify in the first months of life. Ch...

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...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...

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 ye...

Background: Bisphenol A (BPA), a plastic byproduct, is a known endocrine disruptor and is types of cancers, such as prostate and ovaries, and some other health conditions, for instance diabetes and obesity. It has direct effect on reproductive system through its strong oestrogen agonist activity.Objective and hypotheses: BPA has a strong oestrogen agonist activity. And oestrogen antagonize cellular activity of growth hormone (GH), however, the effect of ...

Background: Genetic workup is negative in up to 40% of children presenting with clinical signs of Silver-Russell syndrome (SRS). HMGA2 variants causing SRS are rare, accounting for less than 1% of all reported cases.Case description: A 1y,8m-old boy was referred to our endocrinology institute due to severe failure to thrive (HAZ=-4.6 SDS, WAZ=-4.8 SDS) and feeding difficulties requiring nutritional support via P...

Introduction: Silver-Russell syndrome (SRS) is a rare, well-defined genetic disease characterized by intrauterine and postnatal growth retardation, short stature, triangular face, relative macrocephaly and body asymmetry. The most common molecular pathologies are loss of methylation (50%) of the imprinting center in the p15.5 region of the paternal 11th chromosome and maternal uniparental disomy of the 7th chromosome (5-10%). The IGF2 (insulin-like growth fact...