hrp0098rfc6.4 | Fat, Metabolism and Obesity 1 | ESPE2024

Investigation of GNAS Variations as Causes of Monogenic Obesity in Qatar: An Integrative Approach Utilizing In Silico, In Vivo, and In Vitro Studies

Abbas Alaa , Hammad Ayat , Hussain Khalid , Al-Shafai Mashael , Gohlke Bettina , Lanzinger Stefanie , Boettcher Claudia , Gemulla Gita , Thiele-Schmitz Susanne , Dunstheimer Desiree , van den Boom Louise , Joachim Woelfle , Reinhard Holl

Background: GNAS (Guanine Nucleotide-Binding Protein, Alpha Stimulating) is an imprinted gene that encodes the alpha subunit of the stimulatory G protein (Gsa), which mediates the signaling of various G protein-coupled receptors. Inactivating genetic and epigenetic changes in GNAS, leading to Gsa deficiency, are associated with different subtypes of pseudohypoparathyroidism, which may include severe, early-onset obesity ...

hrp0084p1-76 | Fat | ESPE2015

Endothelial Progenitor Cells in Obese Non-Diabetic Children and Adolescents: Relations to Some Metabolic Parameters, Echocardiographic Parameters and Tissue Doppler Imaging

Ahmed Alaa , Youssef Omneya , Thabet Botheina

Background: Endothelial progenitor cells (EPCs) are involved in the regeneration of the endothelial lining following blood vessel injury. The reduction in the number of EPCs was postulated to be associated with the initiation and progression of cardiovascular disease.Objective and hypotheses: This study aimed at exploration of the number of EPCs in obese non-diabetic children and adolescents and their relation to the fasting lipid levels, fasting glucose...

hrp0094p2-59 | Bone, growth plate and mineral metabolism | ESPE2021

Vertebral compression and shape in children with osteogenesis imperfecta on regular Zoledronic acid infusions

Baioumi Alaa , El Houssinie Moustafa , Elsedfy Heba ,

Introduction: Osteogenesis Imperfecta (OI) is a group of rare hereditary collagen disorders. Vertebral compression fractures and vertebral deformities are well-known complications of OI. Intravenous zoledronic acid is widely used to improve the bone mineral density in children with OI. This study aimed at assessment of the changes in vertebral compression and shape in children who received regular zoledronic acid infusions.Method...

hrp0097p1-545 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Challenges in Diagnosing and Managing Paediatric Metastatic Paraganglioma: A Case Report

Baioumi Alaa , Jayne Farndon Sarah , Crowne Elizabeth

Background: Paragangliomas are rare tumours that originate from neural crest cells. Diagnosing and managing patients with paragangliomas pose several challenges.Objective: We investigated whether MECP2 defects are associated with an idiopathic CPP phenotype with or without mild neurodevelopmental abnormalities.Clinical presentation: A 14-year-old female presented with cons...

hrp0095p1-44 | Diabetes and Insulin | ESPE2022

Characterisation of Type 2 Diabetes mellitus in children and young people across 2 large tertiary Paediatric Diabetes centres

Chatterjee Sumana , Baioumi Alaa , Pryce Rebekah , Williams Georgina , Giri Dinesh

Introduction: The prevalence of paediatric Type 2 diabetes (T2DM) is increasing, contributed by rising incidence of obesity worldwide. Paediatric T2DM is a progressive disease with increased risk of complications and morbidities. Despite recent research, many aspects such as its pathophysiology and optimal management remain unknown.Aim: To characterise the cohort of T2DM patients across 2 large tertiary paediatric diabet...

hrp0092p3-230 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Novel Heterozygous Mutation in Wilms Tumor 1 Gene in Patient with Mixed Gonadal Dysgenesis

Hassan Heba , Essawi Mona , Mekkawy Mona , Kamel Alaa , Mazen Inas

Disorders of sex development (DSD) have defined as congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Wilms tumor 1(WT1) gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms tumor, nephropathy, gonadoblastoma and other defects e.g. cryptorchidism, hypospadias. Sex chromosome mosaicism is a major cause of DSD with a wide phenotypic variability. The p...

hrp0089p3-p341 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Cytogenetic Spectrum of Ovotesticular Disorder of Sex Development in Egyptian DSD Patients

Mazen Inas , Mekkawi Mona , Dessouki Nabil , Mohammed Amal , Kamel Alaa

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissues in the gonads of the same individual. Patients usually present at birth with ambiguous genitalia, and the majority showed a 46,XX karyotype, with absence of the SRY sequence. In this study we reported on nine patients with OT-DSD, who were referred to the Human Genetics and endocrinology Clinics, division ...

hrp0086p2-p417 | Gonads & DSD P2 | ESPE2016

Cytogenetic Study of Sex Chromosomal Abnormalities in Egyptian DSD Patients

Mazen Inas , Kamel Alaa , Mekkawi Mona , El aidy Aya

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...

hrp0089p2-p120 | Diabetes & Insulin P2 | ESPE2018

Identifying the Association of Depression and Diabetic Distress in Pakistani Patients Diagnosed with Type 1 Diabetes

Fatima Arooj , Zaidi Syed Sammar Abbas

Background and aims: Depression plays an important role among patients diagnosed with Type 1 Diabetes. It is believed that diabetes distress is recognised as major psychological issue in Pakistan. Our study aims to identify diabetes distress among Pakistani children patients diagnosed with type 1 Diabetes. We also aim to find out the relationship among depression, distress caused by Diabetes and glycemic control.Materials and methods: A cross sectional s...

hrp0089p2-p121 | Diabetes & Insulin P2 | ESPE2018

Role of Breastfeeding in Prevention of Type 1 Diabetes in Pakistan

Fatima Arooj , Zaidi Syed Sammar Abbas

Background: Diabetes Mellitus is the leading cause of morbidity and mortality especially in under developed countries like Pakistan. In type 1 Diabetes, there is autoimmune destruction of β cells which is genetically transmitted. Various factors are responsible for this autoimmune process like early use of cow’s milk, allergic food, absence of breastfeeding and various other factors.Objective: Our study aims to investigate the role of breastfee...