ESPE Abstracts

Introduction: Children with Prader-Willi syndrome present with short stature and obesity. However, very little is known about the role of this imprinted control region in the general population. This study aims to analyze the methylation status of the PWS imprinting control region (ICR) in placenta and its association with postnatal growth and obesity parameters in healthy children.Methodology: The methylation percentages of the PWS-ICR ...

Background and Aim: IRS1 (Insulin Receptor Substrate 1) is involved in the insulin signalling pathway and abnormalities thereof have been related to metabolic disorders and obesity. In obese subjects, insulin resistance has been associated with changes in IRS1 expression in peripheral in blood. Sex-based differences in cardiovascular disease are well established. Previous results from our group disclosed the association between IRS1 placental methylation with ...

Introduction and aims: MEST (Mesoderm-specific transcript), a candidate gene for Silver-Russell syndrome, is a paternally expressed imprinted gene that positively regulates foetal growth. MEST has also been shown to promote adipose tissue expansion in conditions of positive energy balance. In this context, our objective was to study the possible relationship between placental MEST gene expression and postnatal growth and obesity para...

Introduction: Klotho is an anti-aging protein that reduces adiposity and increases caloric expenditure, among others. Although associations between secreted α-Klotho levels and obesity have been described, its relationship with central obesity and visceral fat accumulation during childhood is poorly understood. Our objective was to study the longitudinal associations between serum α-Klotho concentrations and obesity parameters in apparently healthy...

Introduction: The CCDC3 gene encodes for a protein expressed in endothelial cells and adipose tissue. Insulin increases its expression and, in turn, CCDC3 positively regulates adipogenesis and lipid accumulation. CCDC3 expression is increased in visceral adipose tissue from subjects with obesity. Gestational obesity can modify the metabolic programming in the offspring through epigenetic mechanisms. However, it is unknown whether the...

Background: Infants with Prader-Willi syndrome (PWS) exhibit stunted growth. However, little is known about the role of genes expressed from the imprinted PWS domain in healthy infants. This study aimed to analyze the relative gene expression of the SNURF-SNRPN/UBE3A cluster in the imprinted PWS domain in umbilical cord tissue, and its potential association with prenatal and postnatal growth in apparently healthy infants.Methods:...

Background: During the 1980s there were no officially accredited training programmes for subspecialty training in South Africa. Accordingly, doctors with accreditation from other countries, or with extensive experience in the subspecialty, were recognised as subspecialists, based on peer review.Objective and hypotheses: The objective of this poster was to document the development of a new Paediatric Endocrinology programme in a previously disadvantaged m...

Background: There is much activity in Africa in Paediatric Endocrinology. The international societies, ESPE, and ISPAD helped significantly in the development of paediatric endocrinology training. Considerable research is being done at the PETCA in Kenya, PETWCA in Lagos and elsewhere, but too few of the studies are published. Owing to the pressure of clinical work in Africa most endocrinologists have difficulty in completing their research.Objective and...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...