ESPE Abstracts

Background: In adrenal gland 3β-HSD2 catalyses the conversion of Δ5 to Δ4 steroids (i.e., pregnenolone to progesterone,17 α-hydroxypregnenolone to 17-OHP and DHEA to androstenedione). Defect in this enzyme can affect glucocorticoid, mineralocorticoids and sex steroid synthesis but the clinical and biochemical profile can be very complicating and confusing due to conversion of intermediate steroids to more ac...

Introduction: Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. TT1 is a heterogeneous disorder with a broad spectrum of clinical manifestations. Hypoglycaemia is common, especially in the acute phase of the disease due to liver failure and reduced hepatic clearance of insulin. However, confirmed cases of hyperi...

Background: Hypomagnesemia type 1 (HOMG1) is a rare autosomal recessive condition due to TRPM6 mutation, leading to decrease intestinal magnesium absorption.Objective: To determine the clinical spectrum of HOMG1 due to TRPM6 mutation at a tertiary centre.Case Series: Seven patients (all male) from six different families of hypomagnesemia type 1 due to homozygous TRPM6 mut...

Background: Oral glucose tolerance test (OGTT) is the screening test of choice for Cystic Fibrosis Related Diabetes (CFRD). HbA1C is considered unreliable in diagnosing CFRD because of increased cell turn over in children and adolescents with Cystic Fibrosis (CF).Objective: To determine the validity of HbA1C as a predictive tool for future abnormal OGTT in CF.Material & Methods: Data were colle...

Background & Aim: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition characterized by inadequate production of cortisol and aldosterone and accumulation of androgens. Beta thalassemia is an autosomal recessive condition caused by defective beta-globin resulting in accumulation of unbound alpha globin chains leading to ineffective erythropoiesis. We are reporting an unusual case of CAH due to 21-hydroxy...

Background & objectives: An important aspect of managing type 1 diabetes is to identify and address the apprehensions of patients and parents of newly diagnosed type 1 diabetes. Understanding parental difficulties in managing type1 diabetes and promptly dealing them will surely affect the short and long-term outcome in children. The aim of this study was to determine the affective response of parents after the diagnosis of type 1 diabetes in a developing c...

Background & Objective: Hyperinsulinism-Hyperammonaemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism (CHI) in outbred populations. HI/HA is caused by an activating mutation in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).The aim of this study was to determine the clinical presentation, treatment and risk factors of neuro-developmental disorders in ...

Background: Hyperinsulinaemic hypoglycaemia (HH) is the most frequent cause of severe and persistent hypoglycaemia in infancy. Prompt recognition and successful management are critical to ensure prevention of hypoglycaemic brain injury and neurological sequelae. The incidence of HH varies from 1:50,000-1:2,500, and mutations in at least 12 different genes involved in β-cell insulin release have been described. Recently, the spectrum of genetic causes for HH has been exten...

Background & Objective: Recombinant human insulin like growth factor 1 (rhIGF1) therapy is the only treatment available for primary IGF1 deficiency and related disorders. However, it’s efficacy in promoting growth is controversial and needs cautious monitoring for adverse effects. The aim of this study was to determine the long-term efficacy and safety profile of rhIGF1 therapy.Methods: Retrospective review of a...

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...