ESPE Abstracts

Background and aims: Craniopharyngiomas (CPs) are rare, non-malignant tumors near the pituitary and hypothalamus. Besides surgery, radiotherapy plays an important role in the treatment strategy. Both tumor-related factors and treatment can cause severe obesity and neuroendocrine disorders. Clinical studies have shown that endocrine deficits can occur at a dose level of 18Gy and risk increases with higher doses. Proton therapy (PT) is increasingly used in order...

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused by the disruptio...

Background: Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria.Case reports: We report two siblings with Donohue syndrome with typical dysmorphic features and multiple clinical and biochemical characteristics. G...

Key words: neonates, hypoglycemia, size for gestational age, gender, mode of delivery.Introduction: Neonatal hypoglycemia is one of the most common treatable metabolic disorders. Universal newborn screening for hypoglycemia is primordial in detecting persistent hypoglycemia and asymptomatic episodes in order to save neonates from adverse neurological outcomes and brain injury.Objectives:</s...

Background: Turner syndrome (TS) is characterised cytogenetically by X chromosome monosomy, the presence of an abnormal X chromosome, or mosaicism of a 45,X or have an abnormal sex chromosome rearrangement. Girls with variant TS show no features, fewer or milder features of TS.Objective and hypotheses: We are reporting on a clinical report of a girl with a rare variant of TS (46,X,i(X) (q10)).Method: This is a case report of a 12-y...

Introduction: Hypothyroidism is one of the commonly diagnosed endocrinopathy in children. The typical manifestations of a hypofunctioning thyroid are lethargy, somnolence, dry skin, cold intolerance, constipation, weight gain and bradycardia along with faltering height. Hypothyroidism presenting with typical manifestations is therefore readily suspected and diagnosed. Occassionally, the patients might present with unsual clinical features which might mimic oth...

Aim: To highlight the importance of tangential thinking in unusual clinical presentations, and tracking of family history with emergence of index case.Methods: A case review of three siblings presenting with varied symptoms and diagnosis to the different speciality clinic and noted to have Hypocalcaemia.Results: 14 year old boy, diagnosed at age of 3 years with Duchenne’s muscular dystrophy (DMD), confirmed with identification...

Background: Recombinant GH (rGH) treatment is approved in many countries for treatment of short stature in a number of childhood diagnoses. rGH was first introduced in Kuwait in the 1990s. Since its introduction, there has been no reported data on the clinical profile of treated children. There is a huge gap in knowledge of use and response to Paediatric rGH therapy in Kuwait and the region.Objective and hypotheses: The objective of this study is to repo...

Objective: MRI is the modality of choice to evaluate morphology of hypothalamic pituitary axis (HPA) and associated endocrinopathies. In the paediatric population it presents a diagnostic challenge because of small size and varied disease processes. We undertook a retrospective study to determine the pitfalls in reporting of pituitary imaging.Methods: Evaluation of pituitary MRI scans in 18 patients. We sought a second opinion from a paediatric neuro-rad...

Introduction: Congenital lipoid adrenal hyperplasia (lipoid CAH), is a rare subtypes of adrenal hyperplasia yet the most fatal form, which seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone. Affected patients show salt loss from impaired mineralocorticoid and glucocorticoid synthesis. The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR), which promotes entry of ...