ESPE Abstracts

Introduction: Acute pancreatitis (AP) is rarely seen in children and is typically not associated with common aetiologies seen in adults. AP secondary to hypercalcaemia due to primary hyperparathyroidism (PHPT) is very rare. The annual incidence of PHPT in adults is 30/100,000 with female predominance and 2–5/100,000 in children regardless of sex. We present a rare presentation of PHPT presenting with AP in a 12-year-old boy.<strong...

Background: Carbohydrate counting is an essential part of comprehensive diabetes management and is required for children and adolescents with type 1 diabetes mellitus (T1DM), according to available guidelines. However, there is no specific evidence-grading for carbohydrate counting. This review was done to determine the effectiveness of carbohydrate counting in improving glycaemic control among children and adolescents with T1DM as measured by glycated haemogl...

Background: CFAP126 gene does play a role in the regulation of pancreatic beta cell. Literature suggests that CFAP126 was significantly downregulated in human islet cells of pre-diabetic as compared to non-diabetic and further downregulated in type 2 diabetics. However, to date CFAP126 has not been reported to cause clinical diabetes. We are reporting 2 diabetic siblings, with strong family history of type 2 diabetes on maternal side...

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...

Adrenocortical carcinoma is very rare in children, with annual incidence of 0.21 case per million patient younger than 20 years. At this article I reported two patients. First case was A 16-month-old girl presented with 3 months history of increased appetite and rapid weight gaining, appearance of hair at pubic area for 2 months and acne on face for one-month duration. Parents are non-consanguineous, had no endocrine disorders or tumors. On examination: chubby baby, cushingoid...

Background: In 2020, the average glycaemic index of Type 1 diabetes (T1D) in Southeast Asia (SEA) countries were reported to be at around 83mmol/mol. In many low-middle-income countries (LMICs) in SEA, insufficient infrastructure, lack of universal health coverage and professional knowledge are factors that affect T1D outcomes that adversely affect mortality and morbidity. Action4diabetes (A4D) currently provides comprehensive partnership programmes with defin...

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...