hrp0095p2-261 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

VSD genetic diagnosis exploiting single-cell expression data and deep learning

von der Decken Isabel , Azimi Hamid , Lauber-Biason Anna

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...

hrp0094p2-337 | Multisystem endocrine disorders | ESPE2021

Van Wyk Grumbach Syndrome in an Egyptian Female Pediatric Patient: a rare presentation of a common disease

Ibrahim Amany , Abdel Rahman Alshaimaa Mahfouz ,

Background: Van Wyc-Grumbach syndrome is a rare presentation of long standing pre-pubertal hypothyroidism characterized by bilateral multicystic ovaries, vaginal bleeding and delayed skeletal growth in case of female.Case Presentation: we present a clinical course, diagnosis and management of a case of Van Wyc-Grumbach syndrome in a 10-years old Egyptian counselled for recurrent vaginal bleeding and pubertal advancement for age. She was ...

hrp0094p2-106 | Diabetes and insulin | ESPE2021

Knowledge of the Final Year Medical Students Compared to Interns about the Diagnosis and management of Diabetes Mellitus

Al-Badi Hamid , Al-Sabbari Maryam , Al-Maskari Balsam , Alsaffar Hussain ,

Introduction: Since diabetes mellitus is one of the major non-communicable diseases, therefore it is important taking this subject in some details during the undergraduate medical course, to prepare the students for recognizing the disease and understanding its management. In Sultan Qaboos University, the medical students go through a pre-internship training period, immediately after their final year of clerkship and just before starting their internship.<...

hrp0082wg8.2 | GPED | ESPE2014

Management of Type 1 Diabetes Mellitus in Sudanese Children: Can We Implement International Guidelines?

Abdullah Mohamed

Like many other parts of the world the incidence of type 1 diabetes is increasing in Sudan leading to the double load of communicable and noncommunicable diseases. Many international guidelines for management of these cases have been published to help managing these children. In developing countries proper implementation of these guidelines is faced with difficulties due to lack of trained personnel, health care structure, accessibility to medical services, lack of facilities ...

hrp0089p3-p087 | Diabetes &amp; Insulin P3 | ESPE2018

Prevalance of Fatty Liver in Patients with Type 1 Diabetes Mellitus Attending Diabetes Clinic at Alexandria University Children’s Hospital

Fawzy Dina , Elsayed Shaymaa , Adel Abdel-Moneim Mahmoud

Background: Type 1 diabetes mellitus (T1DM) - related hepatopathy is not uncommon and tends to be more prevalent among children with poor glycemic control. Recent studies suggest that fatty liver disease may be more common in T1DM than previously thought.Aim: The aim of this work was to determine the frequency of hepatopathy in patients with type 1 diabetes mellitus attended diabetes clinic at Alexandria university children’s hospital (AUCH) and it&...

hrp0086p1-p240 | Diabetes P1 | ESPE2016

Effect of Vitamin D Supplementation on Lipid Profile in Vitamin D Deficient T1D Patients with Dyslipidemia

Hafez Mona , Musa Noha , Sharaf Sahar , Wahab Nehal Abdel

Background: It was suggested that vitamin D has both direct and indirect effects on modifying the lipid profile in patients with diabetes through its regulatory action that increases the activity of lipoprotein lipase in adiposity.Objective and hypotheses: To detect the relationship between serum 25(OH) D and lipid profiles in patients with T1D and dyslipidemia and to study the effect of vitamin D supplementation on lipid profiles of vitamin D deficient ...

hrp0084p2-225 | Bone | ESPE2015

Early Detection of Increased Bone Turnover among Children and Adolescents with Type 1 Diabetes Mellitus

Wahab Amina Abdel , Sharkawy Sonia El , Attia Fadia , Amin Mona

Background: Most organs including bone are affected in type 2 Diabetes (T1D) mechanisms. The exact mechanism of bone derangement is still unknown.Aim of work: i) Assessment of Pyridinoline crosslinks as a bone resorption marker and alkaline phosphatase as a bone formation marker in T1D in children & adolescents. ii) To determine the effect of glycemic control and disease duration on bone turnover.Subjects and methods: 39 T1D pa...

hrp0084p3-739 | Diabetes | ESPE2015

Assessment of Quality of Life in Adolescents with Type 1 Diabetes; a Pilot Study

Hassan Mona , Musa Noha , Hay Rehab Abdel , Fathy Ashgan

Background: Diabetes as a disease and its treatment can have a profound effect on the quality of life (QoL) in terms of social and psychological well-being as well as physical ill health. Current goals of diabetes management focus on optimising metabolic control, along with preserving a good QoL.Aims and objectives: To assess QoL in adolescents with type 1 diabetes (T1D) at the Diabetes Endocrine and Metabolism Pediatric Unit at Cairo University.<p c...

hrp0094p2-251 | Growth hormone and IGFs | ESPE2021

Screening of celiac disease among children with growth hormone deficiency and idiopathic short stature

El-Hawary Amany , Salem Nanees , Abdel Twab Hossam , Badrous Evan ,

Celiac disease (CD) is an intestinal chronic inflammatory and autoimmune disease that develops as a result of interplay between genetic, immunologic, and environmental factors. Many patients, who are referred for evaluation for short stature, show initially no identifiable abnormalities and labeled as having idiopathic short stature (ISS). Children with growth hormone deficiency may show poor response to growth hormone (GH) replacement therapy. In both conditions, this may be ...

hrp0097p1-534 | Multisystem Endocrine Disorders | ESPE2023

Endocrinal Disorders in Patients with Chronic Lung Diseases, Single-Center Experience

Draz Eman , Abdel Halim Radwa , Dawoud Ahmed , Shamma Radwa

Keywords: Endocrine, Non-cystic fibrosis bronchiectasis, Interstitial Lung Disease (ILD)Introduction: Recent evidence shows that there is association between different endocrinal disorders and the pathogenesis of chronic lung diseases. These disorders have an impact on quality of life and management of these diseases.Aim of work: Assess the correlation between two chronic lung dise...