ESPE Abstracts

Catch-up growth (CUG) is characterized by a period of supranormal height velocity following a transient period of growth inhibition. The two classical hypotheses on the mechanism are the neuro-endocrine hypothesis (a central mechanism that would recognize the degree of mismatch between actual size and target size) and the growth plate hypothesis (local regulation of growth according to a preset cellular program of senescence, characterized by decreasing growth proliferation ra...

Global growth in the use of mobile phones, the so-called smartphones, makes them a powerful platform to help provide tailored health, delivered conveniently to patients. These devices are developing rapidly mainly with regard to information processing, design, features and connectivity with other devices. Modern treatment and monitoring of type 1 diabetes is being supported by rapid evolving technology as pumps for continuous subcutaneous insulin infusion and sensors for conti...

Background: Nutritional rickets is a disorder of defective chondrocyte differentiation and mineralization of the growth plate and osteoid due to vitamin D deficiency with or without low calcium intake in growing children. Maternal Vitamin D deficiency and exclusive breastfeeding without supplementation are the most frequent causes of rickets in the infancy. Vitamin D deficiency is still a problem in Sri Lanka in spite of sun shine throughout the year. We present a case series ...

Circulating Exosomal miRNAs involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis.Background: The incidence of children non-alcoholic fatty liver disease (NAFLD) increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver, there are still a small part of them will progress to nonalcoholic steatohepatitis (NASH), fibrosis and cirrhosis. However, the diagnosis of NASH is b...

Background: The increasing incidence of obesity is a global public health challenge. Although energy imbalance is the major cause of obesity, evidence suggests that other risk factors such as exposure to endocrine-disrupting chemicals (EDCs) may contribute to the development of obesity. Early life exposure to obesogens may result in a higher risk of developing obesity. Among the chemicals suspected to have obesogenic effects, bisphenol A (BPA) and phthalates are under worldwid...

Background and aims: The spread of obesity among children and adolescents is increasing significantly in the last decades. The World Health Organisation defined the disease as a global epidemic and the need of complex interventions worldwide is well recognised. Obesity is major risk factor for many chronic diseases, including diabetes, cardiovascular and lung diseases, orthopaedic and skin problems, and cancer. There are strong predictors that 50% of pre-pubertal and 50–7...

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

Background: Sotos syndrome is a rare syndrome; with distinctive clinical findings include typical facial appearance, learning disability; and overgrowth. Advanced bone age can be detected in some cases while precocious puberty reported only in two cases until now.Case: A 6,5 months of age male infant admitted to clinic with neuromotor delay and macrogenitalia. He was second child of unrelated healthy parents, and birth-weight was 4200 g. In physical exa...

Background: The side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associate with primary adrenal insufficiency (PAI) and, in 46,XY patients, Disorders of Sex Development (DSD). A total of 35 patients (27 families) are reported including 15 intermediate forms with delayed onset of PAI, variable degrees of DSD or normal male phenotype.<p class="abstext"...

Background: Prenatal treatment with dexamethasone (DEX) has been used since the mid 80’s to minimize virilisation of girls with congenital adrenal hyperplasia. Long-term data on treatment safety and health outcome are still limited. It has been shown in animal models that prenatal dexamethasone treatment affects DNA methylation signatures as well as metabolism and behavior. We have previously shown that DEX affects working memory in children who were treated with DEX duri...