hrp0098p2-101 | Fat, Metabolism and Obesity | ESPE2024

Weight development and neuroendocrine deficits following proton beam therapy in children with craniopharyngioma

Bischoff Martin , Beckhaus Julia , Ahmad Khalil Dalia , Sabine Frisch , Koska Benjamin , Kiewert Cordula , Kortmann Rolf-Dieter , Bison Brigitte , Friedrich Carsten , L. Müller Hermann , Timmermann Beate

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...

hrp0089fc3.6 | Diabetes and Insulin 1 | ESPE2018

Using CRISPR/Cas9 Gene Editing to Study the Molecular Genetics of Congenital Hyperinsulinism

Purushothaman Preetha , Aldossary Ahmad , Guerrini Ileana , Hart Stephen , Hussain Khalid

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...

hrp0086fc9.3 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Gastrointestinal Dysmotility and Pancreatic Exocrine Insufficiency as Newly Recognised Possible Features in Two Siblings with Donohue Syndrome

Kostopoulou Eirini , Shah Pratik , Semple Robert , Ahmad Noman , Hussain Khalid

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...

hrp0097p1-284 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Neonatal hypoglycemia at one and four hours of life: incidence and associated factors

Nicolas Georges , Khalil Rita

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...

hrp0084p3-1245 | Turner | ESPE2015

A Rare Variant of Turner Syndrome: First Clinical Report from Kuwait

Mohamed Kholoud , Al-Abdulrazzaq Dalia

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...

hrp0092p2-289 | Thyroid | ESPE2019

Uncommon Presentations of a Common Condition: Experience from a Teaching Hospital!

Ahmad Ayesha

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...

hrp0084p3-676 | Bone | ESPE2015

What Lies Beneath: An Enigma of Missed Opportunities and Calcium Problem

Hammouche Dalia , Rafiq Anjum , Puthi Vijith

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...

hrp0084p3-983 | GH &amp; IGF | ESPE2015

GH Therapy in Kuwait: First Report on Characteristics and Response in Treated Children

Al-Abdulrazzaq Dalia , Al-Basari Iman

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...

hrp0084p3-1103 | Pituitary | ESPE2015

Pitfalls in Reporting of Paediatric Pituitary Scans

Hammouche Dalia , Ebita-Gama Aufrey , Puthi Vijith

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...

hrp0095p2-27 | Adrenals and HPA Axis | ESPE2022

It is Not Always A Piece of Cake!!

Diab Dina , Sayed Shaymaa El , Marzouq Iman , El Neely Dalia , Alaa Thabet Dalia , Awaa Ahmed El

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 ...