ESPE Abstracts

Introduction: The Androgen Receptor (AR) is a steroid hormone receptor. Upon activation by its potent ligand, 5-alpha-dihydrotestosterone (DHT), it regulates the expression of target genes leading to the development of the outer male genitalia. Mutations in the AR gene are associated with Androgen Insensitivity Syndrome (AIS), characterized by the presence of testes and varying degrees of undervirilization of the external genitalia. Since many individ...

Background: To study the genetic profile of infants with neonatal diabetes (NDM) and response to empirical glibenclamide.Method: A retrospective study between 2014-2018, the data retreived from patients admitted with neonatal diabetes with genetic analysis. Started on insulin and empirical glibenclamide given in selected cases to evaluate the effects. Glibenclamide was started in 4 children who were not euglycemic on ins...

Objective: To evaluate the height outcomes with growth hormone (GH)therapy during gluten fee diet in celiac disease (CD) associated with growth hormone deficiency in associated with isolated GHD.Method: A retrospective study of 17 CD with growth hormone deficiency with 17 age and sex matched children with GHD were included in the study. Their pre and post treatment height and predicted height were evaluated.<p class=...

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...