ESPE Abstracts

Background and Objective: Autoimmune Addison’s disease is generally regarded as an irreversible progressive disease leading to the lifelong replacement of glucocorticoids and mineralocorticoids. We are reporting a rare case of a patient diagnosed with clinically overt Addison’s disease who showed recovery of adrenal functions over time.Case presentation: A 10.5-year-old girl was diagnosed with celiac disease ...

Objective: to determine the association of various genetic and environmental risk factors with T1DMStudy design: a case control study Place and duration of study: this study was conducted at University of Child Health Sciences, the Children’s hospital, Lahore from mm/yy to mm/yyMethodology: The total study population consisted of two groups, that is, cases and controls. Cases...

Background: Thiamine-responsive megaloblastic anemia (TRMA) syndrome, is an autosomal recessive disorder marked by sensorineural hearing loss, diabetes mellitus, and megaloblastic anemia caused by mutations in the SLC19A2 gene.Objective: We are reporting five patients with TRMA syndrome in the Pakistani population.Case Summary: We report five male patients, from two differ...

Background: Wolcott-Rallison syndrome is a rare autosomal recessive condition. It is characterized by neonatal or early-onset, non-autoimmune insulin-dependent diabetes, spondyloepiphyseal dysplasia, renal or hepatic failure and growth retardation.Objective: We are reporting a novel homozygous pathogenic mutation in the EIF2AK3 c.1277T>A p. (Leu426*) in a Pakistani child who presented with neonatal diabetes, ...

Background: Type 1 diabetes mellitus (T1DM) is a disorder characterized by insulin insufficiency caused by the autoimmune destruction of pancreatic beta cells. Optimum control of TIDM needs insulin administration along with intensive education. Lipohypertrophy is one of the complications and risk factors of uncontrolled diabetes.Objective: To determine the frequency and associated factors of lipohypertrophy in children a...

Objective: To determine the frequency, clinical spectrum, and risk factors for microvascular complications in children and adolescent with T1DM.Methodology: Descriptive, observational study was conducted over 1 year (April 2023 till March 2024) at the Department of Pediatric Endocrinology and Diabetes, The Children's Hospital, Lahore, Pakistan. Total 127 patients, aged 1 to 18 years having minimum 3 years of T1DM in...