ESPE Abstracts

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...

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...

Context: Congenital hyperinsulinism (CHI) has two main histological types – diffuse and focal. Diffuse CHI is due to recessive or dominant mutations in ABCC8/KCNJ11. Focal disease is due to somatic maternal allele loss of 11p15 in pancreatic β-cells along with paternally inherited germline ABCC8/KCNJ11 mutation. Fluorine-18 L-3, 4-dihydroxyphenylalanine positron emission tomography computerized tomography (18F DOPA–PET...

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...

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...

Introduction: Prolactinomas, constitute 50% of pediatric pituitary adenomas and 2% of all intracranial tumors. These tumors disrupt normal dopamine regulation, leading to hyperprolactinemia and mass effects that impair growth, puberty, and reproduction. Early detection is vital to prevent complications and preserve fertility. This case report outlines diagnostic challenges and management of a prolactinoma in a 15-year-old boy with visual disturbances, delayed ...

Introduction: Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) syndrome is a rare and complex disease that mortality is due to hypothalamic dysfunction and respiratory arrest. The aimof the study is to present a case of a patient with ROHHAD syndrome.Case Presentation: a 6-years old boy was consulted to Pediatrician OPC with obesity and snoring, starting in mid-2015....

Background: Diazoxide and octreotide are first and second-line of treatment for HH respectively. Long-acting somatostatin analogue (Lanreotide, LA) has been used in adults with neuroendocrine conditions through its effect on somatostatin receptors 2 (SSTR2) and 5 (SSTR5).Objective and hypotheses: (i) To evaluate the efficacy, safety and pharmacokinetics of LA therapy in children with HH. (ii) To determine somatostatin receptor expression on pancreatic al...