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 ...

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: Turner syndrome (TS) is the most common genetic disorder. Genotypically, they can be classified depending upon karyotype like monosomy, abnormal X chromosome and mosaics. Short stature and premature ovarian failure are the most consistent features of turner syndrome. However, the presentation of other clinical features is quite varied.Objective: To determine correlation between Genotype & Phenotype in Tur...

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: Adrenocortical tumors are rare tumors in children with very limited data to reveal outcome in resource- limited settings.Materials and Methods: A retrospective cohort study was carried out to evaluate medical records of 24 children with adrenocortical tumors, who were registered at our tertiary care hospital from Jan 2012 to date.Results: Total 24 children were included...

Background: Primary hyperparathyroidism is a rare cause of persistent hypercalcemia in children and adolescents, with parathyroid adenoma being the most common underlying etiology. We are reporting a case of primary hyperparathyroidism due to parathyroid adenoma in an adolescent Pakistani girl with an unusual presentation of difficulty in walking due lower limb deformity (bilateral genu valgum).Case summary: A 13-year-ol...

Background: Autosomal-dominant hypocalcemia hypercalciuria (ADHH) is rare a genetic disorder characterized by hypocalcemia, hypercalciuria, low or inappropriately normal levels of parathyroid hormone caused by heterozygous activating mutation of calcium sensing receptor. It may be familial or sporadic with variable genotype and phenotype correlation.Objective: We are reporting a de-novo heterozygous variant of the Ca...

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...

Background: Vitamin D dependent rickets Type 2A (VDDR2A) is a rare autosomal recessive disorder due to mutation in vitamin D receptor (VDR) leading to hypocalcemia, secondary hyperparathyroidism and signs of rickets. It usually presents with bony deformities along with complete or partial alopecia and is challenging to manage.Objective: We are reporting case series of two siblings with VDDR2A who were managed in a non-co...