ESPE Abstracts

Background: Resistance to thyroid hormone beta (THRβ) is a clinical spectrum which varies in presentation even between individuals with the same mutation. Life-threatening cardiac dysfunction is recognized in homozygous THRβ state but never reported in cases of inherited heterozygous THRβ defects.Aim: We report the first case of familial inherited heterozygous (THRB) beta mutation presenting with ...

Background: Primary IGF1 deficiency can result from molecular defects in genes encoding for the GHR, IGF1, STAT5b and ALS. Heterozygous, activating mutations in the STAT3 gene have been recently described in children with severe growth failure associated with a spectrum of early-onset autoimmune disease.Case presentation: We report the molecular diagnosis in two unrelated patients with severe growth failure and IGF1 deficiency: P1, a 3.6 year ol...

Background: We have recently reported the molecular diagnosis of two patients with severe growth failure associated with a spectrum of early-onset autoimmune disease and immunodeficiency. Heterozygous de novo mutations, c.1847_1849delAAG (p.E616del) and c.1276T>C (p.C426R), in the STAT3 gene were found. Functional in vitro studies of these variants are presented.Objective and hypotheses: We...

Objective: To define the prevalence of autoantibodies at presentation in children with type 1 diabetes and to determine the associated comorbid autoimmune conditions in Indian pediatric patients.Materials and Methods: Children (n=468) diagnosed with type 1 diabetes at Indraprastha Apollo Hospital, Delhi, India for childhood Diabetes were screened for autoimmune thyroid disease (thyroid peroxidase autoantibodies [TPOAb]), celiac disease (tissue t...

Introduction: Type 1 Diabetes is a condition associated with deficiency of insulin, which is a key regulator of carbohydrate and fat metabolism. Most newly diagnosed type 1 diabetes present with diabetic ketoacidosis, which is a triad of hyperglycemia, ketonemia and acidosis. It usually presents with features of acidosis such as lethargy, dehydration, and tachypnea.Case: We present a case that presented to us with a lipemic blood sample and on further wo...

Introduction: Liraglutide is a long-acting glucagon-like peptide-1 receptor agonist which directly stimulate POMC neurons and inhibit neuropeptide-Y and Agouti-related peptide neurons of the arcuate nucleus resulting in appetite suppression. It has been approved in adult population for obesity.Aim: To assess the Efficacy and Safety of Liraglutide in Indian Adolescent obese population.Materia...

Background: Obesity is one of the most common nutritional problems in developed countries. The prevalence of obesity is rapidly progressing in children. It is associated with serious health hazards in adolescence and especially in adulthood, like hypertension, coronary artery disease, diabetes mellitus, etc.Methods: A study was conducted including the pediatric patients presented to Indraprastha Apollo hospital with signs of insulin resistance. All patie...

Introduction: Congenital Hyperinsulinemic hypolglycemia (CHI) is a rare genetic disorder resulting severe hypoglycaemia secondary to excessive insulin release from the pancreatic cells. Its early diagnosis is imperative to prevent irreversible brain damage by hypoglycemia. Genetic testing and 18-F-DOPA scan help to confirm the diagnosis.Case: A 2.7 kg male baby was born at term to non-consanguineous parents by normal vaginal delivery. On day 4 of life th...

Objective: To evaluate the genetic mutations prevalent in Indian children with Neonatal diabetes.Methods: All infants, less than 6 months of age with hyperglycemia requiring insulin were included in the study and their genetic testing were done.Results: Ten infants with ND were included; there were three females and seven males. The age of presentation ranged from 4 weeks to 28 weeks of age. of all the children tested 5 children we...

Objective: To evaluate the growth response in children with Noonan syndrome (NS) treated with growth hormone (rGH).Methods: We retrospectively collected data from 2007 of pre-pubertal children with NS, their baseline auxological parameters were recorded pre and post treatment.Results: A total 1134 were treated with growth hormone for short stature of which there were six cases of NS, constituting 0.5% of the short stature. There we...