ESPE Abstracts

Background: Aromatase deficiency is a rare autosomal recessive condition due to mutation in CYP19A1 encoding aromatase enzymes. This enzyme protects fetus and mother from excess of androgens by converting them into estrogen. Lack of its activity results in accumulation of androgens which in turn lead to maternal and fetal virilization. We are reporting a neonate with atypical genitalia with severe maternal virilization due to a novel mutation in C...

Background: Evidence based treatment of patients with Disorders of sex development (DSD) is challenged by a dearth of outcome studies.Objective and hypotheses: To study the quality of life and the psychological outcomes of children with DSD other than congenital adrenal hyperplasia (CAH) and to identify relevant risk factors.Method: Patients with DSD other than CAH aged between 6 and 18 years. Control subjects were matched for age ...

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 & 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 and Objectives: Managing type 1 diabetes (TIDM) in covid pandemic is a real challenge in resource limited countries like Pakistan. This study was aimed to determine the effects of covid 19 in managing type 1 diabetes in resource limited countries.Methods: Cross-sectional observational study, included all type 1 diabetes patients who were already enrolled in endocrine and diabetes clinic and were on regular fol...

Background: In 2022, 1.52 million children and adolescents worldwide were diagnosed with type 1 diabetes mellitus (T1DM). During COVID-19, diabetic ketoacidosis (DKA) episodes in newly-onset and established cases increased in 44.2% and 30.1% of paediatric diabetes centres, respectively. In 2017-2019, 1,249 children were diagnosed with T1DM in Indonesia, and 70% were diagnosed with DKA at diagnosis in 2017. Changing Diabetes in Children (CDiC) is a public-priva...

Keywords: Central Precocious Puberty, Girls, Peripheral, IdiopathicBackground: Precocious puberty is thought to occur in 1 in 5000–10,000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence.Objective: To find the frequency of precocious ...

Introduction: Mutations in Insulin Receptor (INSR) is usually associated with insulin resistance and hyperglycemia. Homozygous or compound heterozygous mutations in INSR are usually linked with Rabson-Mendenhall or Donohue syndromes whilst heterozygous INSR mutations are associated with type A insulin resistance. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycemia (HH) have been de...

Introduction: Proton beam therapy (PBT) is being used increasingly for craniopharyngioma, as it is perceived to be a major benefit. There are some limited data relating to endocrine dysfunction following PBT, but very limited data on hypothalamic disturbance. Here we report two patients who presented with hypothalamic disruption immediately following PBT for craniopharyngioma.Case 1: A 12 year old girl presented with sei...

Introduction: Hypomethylation at the imprinting control region 2 (IC2) on chromosome 11p15.5 is the commonest identifiable cause of Beckwith-Wiedemann Syndrome (BWS). IC2 is located in KCNQ1 intron 10 and is associated with Long QT syndrome (LQTS). A recent consensus statement on BWS1 recommends annual cardiac evaluation with electrocardiogram (ECG) in these patients. The natural history of LQTS secondary to hypomethylation at IC2 in BWS is...