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 ...

hrp0097p1-221 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Celiac disease in a patient with Sclerosteosis: an association or just a co-incidence?

Abdelmeguid Yasmine , Riad Salma , Mokhtar Nada , Taha El-Hendawy Mahmoud

Sclerosteosis is a rare autosomal recessive disorder characterized by progressive skeletal overgrowth and increased bone density. Loss of function mutations of SOST gene, coding for sclerostin, are linked to sclerosteosis. Sclerostin plays a critical role inhibiting osteoblastic activity and preventing excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis patients are often tall and have excessive body weight due to high skeletal weight. To...

hrp0097p2-223 | Growth and Syndromes | ESPE2023

The Impact of Different Karyotypes on the Response to Growth Hormone Therapy in Girls with Turner Syndrome

El-Hawary Amany , Elsharkawy Ashraf , Gaber Amira , Salem Nanees

Background: Short stature is the most common clinical feature in patients with Turner syndrome (TS). The relation of different karyotyping to growth hormone (GH) level in provocation tests or to the response to GH therapy is debatable.Aim: to study the impact of different karyotypes on the GH level in provocation tests and on the response to GH therapy among a cohort of Egyptian girls with TS.<stro...

hrp0097p2-313 | Late Breaking | ESPE2023

Oral Benfotiamine 300 mg Versus Intramuscular Thiamine in Diabetic Patients with Peripheral Neuropathy

Hesham El Hefnawy Mohamed , Ramadan Heba , effat Abanob

Keywords: Benfotiamine, Bioavailability, Thiamine, Diabetic Peripheral Neuropathy Abbreviations: Adverse Event (AE), Advanced Glycation End products (AGE), Analysis of Variance (ANOVA), Alanine Transaminase (ALT), Body Mass Index (BMI), Case Report Form (CRF), Diabetic Neuropathic Symptom score (DNSS), Diacylglycerol (DAG), Dipeptidyl Peptidase 4 Inhibitor (DPP-4 I), Good Clinical Practice (GCP), Informed Consent Form (ICF), Intent to Treat (ITT), Institutiona...

hrp0084p3-856 | Fat | ESPE2015

Relationship between Visceral Obesity and Plasma Fibrinogen in Obese Children

Hafez Mona , Masry Sahar El , Musa Noha , Fathy Marwa , Hassan Mona , Hassan Nayera , Tareef Mahmoud , Husseiny Mohamed El

Background: The prevalence of obesity in children and adolescents has increased significantly worldwide with an alarming rise of its co-morbidities. The excess of visceral adipose tissue is associated with hypertension, prothrombotic and pro-inflammatory states leading to cardiovascular diseases.Aim of the study: To find possible associations between visceral obesity and plasma fibrinogen, as one of the cardiovascular risk factors, in obese children....

hrp0086p1-p345 | Gonads &amp; DSD P1 | ESPE2016

Accuracy of Pelvic MRI in Evaluating Internal Genitalia in Patients with Disorders of Sex Development

Mahfouz El Nachar Linda , Rekik Djalal , Peycelon Matthieu , Leger Juliane , Paye-Jaouen Annabel , Alison Mariane , El Ghoneimi Alaa , Carel Jean-Claude , Martinerie Laetitia

Background: Patients with disorders of sex development (DSD) require multidisciplinary team management for etiology identification and gender assignment. Identification of mullerian structures is an important part of the evaluation process. Ultrasonography remains the first-line imaging modality to delineate mullerian structures; while the importance of magnetic resonance imaging (MRI) is insufficiently studied.Objective and hypotheses: To evaluate the d...

hrp0082p3-d3-752 | Diabetes (4) | ESPE2014

The Psychological Impact of Diabetes on Glycaemic Control in Affected Saudi Children at Different Developmental Age Groups

Babiker Amir , El Rashid Mona , Al Jurayyan Nasir , Druce Maralyn , Bahebri Aban , El Ahmedi Mohamed , Errasoul Ahmed H , Gasim Hala , Coppack Simon

Background: Diabetes is the third commonest chronic disease of childhood. When a child or an adolescent is diagnosed with type 1 diabetes (T1D), adaptation to a new life is usually a challenge for the whole family. There are specific challenges posed by T1D on the affected children, and their families, at different developmental age groups. The correlation between HbA1c and age specific psychological challenges, to our knowledge, has not been previously explored in the Middle ...

hrp0084p3-582 | Adrenals | ESPE2015

Rapid Molecular Diagnosis of CAH by Strip Hybridisation Assay in DEMPU

El-Mougy Fatma , Hafez Mona , Atty Sahar Abdel , Ibrahim Amany , Mehawed Hend , Musa Noha , Ekladious Sherif , Elsharkawy Marwa , Abdullatif Mona , Afif Alaa , Baz Heba El

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder in which more than 90% of CAH cases are caused by mutations of the 21-hydroxylase (CYP21A2) gene.Objective and hypotheses: To determine the mutational spectrum in Egyptian CAH patients attending Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU) including family members of CAH patients.Method: The use of reverse hybridization assay for the mol...

hrp0092p2-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Growth and Bone Mineral Density in Egyptian Children with Congenital Adrenal Hyperplasia on Glucocorticoid Replacement Therapy; A Single Center Study

Magdy Omar Omneya , Elsayed Shaymaa , Abokhashaba Mohamed , Abd El Fattah Magdy

Background: Children with congenital adrenal hyperplasia (CAH) need chronic glucocorticoid therapy, both to replace congenital deficit in cortisol synthesis and to suppress the overproduction of androgens by the adrenal cortex. High doses of glucocorticoid taken chronically might affect bone metabolism and lead to alterations of bone mass in this condition. In particular, they could increase bone resorption rate. Bone mineral density (BMD) by energy X-ray abso...

hrp0092p2-256 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Clinical and Cytogenetic Study of Patients with Disorders of Sex Development (DSDs) Associated with Congenital Anomalies or Recognizable Syndromes

Mazen Inas , Mekkawi Mona , Kamel Alaa , Waly Sherif , Atef Abeer , Torky Ahmed , El Gammal Mona

Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.Herein we present 62 patients with DSD associated with somatic anomalies. Patients were selected from clinical genetics dept., NRC. They underwent complet...