ESPE Abstracts

Background: Cardiomyopathy is a heterogeneous group of disorder of myocardium associated with mechanical and/or electrical dysfunction that usually exhibit inappropriate ventricular hypertrophy or dilatationleading to heart failure. Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is rare inherited disorder of cortisol biosynthesis, due to genetic defects of CYP11B1 gene presenting as hypertension, features of androgen excess, and peripheral precocio...

Background: Socioeconomic status (SES) is inversely associated with many chronic diseases, with disadvantaged individuals faring worse than the others. In diabetes mellitus, however, studies evaluating the relationship between SES and the glycaemic control have shown variable results.Objective and hypotheses: To understand the effect of SES on the long term glycemic control in children with type 1 diaebtes mellitus (T1DM) at a tertiary centre in India.</...

Background: Lanreotide is a long acting somatostatin analogue that has been used successfully in the treatment of congenital hyperinsulinism (CHI) in patients who are unresponsive or intolerant to diazoxide. Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults with diabetes mellitus. We report a patient with persistent CHI on Lanreotide therapy, who developed recurrent hypoglycaemia following Fluoxetine therapy.Ca...

Introduction: Childhood obesity is a growing concern worldwide, and it has been linked to several nutritional and genetic factors. In some patients, monogenic causes can be identified, which are due to single gene mutations in specific pathways related to appetite regulation. One of the most common monogenic causes of obesity is heterozygous mutations in Melanocortin 4 receptor (MC4R), with a prevalence ranging from 2% to 6% in juvenile-onset obesity. We repor...

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Objective and hypotheses: We report a kindred with three siblings born to unrelated parents manifesting with two different forms...

Introduction: Long-acting growth hormone (LaGH) therapy has emerged as a newer treatment option for children with growth hormone deficiency, offering a convenient way of administering growth hormone (GH) injections on a weekly basis. Trials have shown that LaGH formulations are effective in increasing height velocity, improving bone mineral density, and reducing body fat mass in children with Growth hormone deficiency (GHD). The once weekly injections also hav...