hrp0086p2-p429 | Gonads & DSD P2 | ESPE2016

Novel AMH and AMHR-II Mutations in Two Egyptian Families with Persistent Mullerian Duct Syndrome

Mazen Inas , El Gammal Mona , El Aidy Aya , Abdel Hamid Mohamed

Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.<p class="abstext...

hrp0086p2-p531 | Fat Metabolism and Obesity P2 | ESPE2016

Associations of Serum 25-Hydroxyvitamin D and Components of the Metabolic Syndrome in an Egyptian Cohort

Ibrahim Amany , Meabed Mohamed , El Mosallamy Nevin , Abo El Hassan Gehad

Background: Vitamin D deficiency may be associated with increased risk of metabolic syndrome.Objective and hypotheses: We aimed to assess the relation between 25-hydroxyvitamin D (25(OH) D) with the different metabolic syndrome components in overweight and obese subjects.Method: Ninety eight subjects (≥85th percentile for age and sex) recruited from the Diabetes, Endocrine & Metabolic Paediatrics Unit (DEMPU), Cairo Unive...

hrp0086p1-p636 | Growth P1 | ESPE2016

The Use of Tissue Doppler Imaging in Assessing Right and Left Ventricle Diastolic Function in Children with Growth Hormone Deficiency before and after 1-Year Therapy with Growth Hormone

Khalaf Randa , Elkholy Mohamed , Elsedfy Heba , Kotby Alyaa , Hamza Rasha , Youssef Omneya

Background: Growth Hormone (GH) therapy has a positive effect on many parameters including metabolic and physiologic functions as well as its effect on growth. It has also been shown that GH therapy exerts a significant effect on cardiac morphology and function as evidenced by echocardiographic findings.Aim: To investigate left and right ventricle (LV, RV) diastolic function by Tissue Doppler imaging (TDI) in pre-pubertal growth hormone deficient (GHD) c...

hrp0086p2-p645 | Growth P2 | ESPE2016

Effect of One-Year Growth Hormone Therapy on Serum Levels of Ghrelin and Leptin in Children with Growth Hormone Deficiency and their Correlations with Cardiac Functions and Dimensions

Khalaf Randa , ElKholy Mohamed , Elsedfy Heba , Kotby Alyaa , Hamza Rasha , Youssef Omneya , Mahmoud Nermine

Background: Controversial data on ghrelin and leptin concentrations in patients with growth hormone deficiency (GHD) have been published. Little has addressed the correlation between Ghrelin and leptin with cardiac functions in patients with GHD.Aim: To investigate the effect of one year Growth hormone (GH) therapy on serum levels of ghrelin and leptin in children with GHD and to study their correlations with cardiac functions and dimensions in patients ...

hrp0082p2-d2-277 | Adrenals &amp; HP Axis (1) | ESPE2014

Psychological and Behavioral Outcome of Female Patients with Congenital Adrenal Hyperplasia

Ashmawy Abeer El , Abdou Amany , Nasr Mohamed , Tawfik Sameh , Abdelghaffar Shereen , Ibrahim Amany

Background: Children with congenital adrenal hyperplasia (CAH) may suffer from multiple psychological troubles.Objective and hypotheses: To assess the psychological and behavioral outcome of genetically females with classic CAH and to study the extent to which these behavioral changes could be attributed to high levels of androgens in the prenatal and postnatal periods.Method: 51 genetically females with CAH, representing Prader st...

hrp0082p2-d1-364 | Fat Metabolism &amp; Obesity | ESPE2014

The Association Between Self-Reported Sleep Quality, Ghrelin Hormone and Obese Children and Adolescents

El-Ashmawy Abeer , Eyada Iman , Mohamed Nahed , Attya Mona , Abdel-Ghaffar Shereen , Farouk Marwa

Background: Sleep quality, ghrelin hormone and obesity are associated with metabolic syndrome.Objective and hypotheses: To study associations between sleep duration, level of ghrelin and obesity in children and adolescents.Method: A prospective study was conducted on 50 children (their mean age: 8.7±3.2 years) with simple exogenous obesity (BMI SDS >2) recruited from Diabetes Endocrine and Metabolism Pediatric Unit, Childr...

hrp0082p2-d3-490 | Endocrine Oncology | ESPE2014

Genetic Susceptibility in Autoimmune Polyglandular Syndrome Type 3 Variant

Babiker Amir , Gadi Iman Al , Jurayyan Nasir Al , Mohamed Sarar , Al Otaibi Hessah , Hussain Khalid

Background: Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spectrum of autoimmune endocrine disorders other than adrenal insufficiency. It includes the association of autoimmune thyroid disease (ATD) with type 1 diabetes (T1D) which is known as APS3 variant (APSA3v). Genes linked to possible joint susceptibility for APS3v have been reported in few cases. We report a 10-year-old girl with Graves’ disease (GD) who developed T1D after 6 years of the diagnos...

hrp0082p3-d2-740 | Diabetes (3) | ESPE2014

Continuous Glucose Monitoring System in the Diagnosis of Early Glycemic Abnormalities in High-Risk Groups

Soliman Ashraf , Yassin Mohamed , Elawwa Ahmed , Elalaily Rania , De sanctis Vincenzo

Background: Continuous glucose monitoring (CGM) systems are an emerging technology that allows frequent glucose monitoring in real time.Objective and hypotheses: To assess the value of using CGM system (Medtronic) versus oral glucose tolerance (OGT) and HbA1c in the diagnosis of glycemic abnormalities (Prediabetes) in high-risk groups.Methods: We performed OGT and monitored glucose for 72 h using CGMS combined with four to five tim...

hrp0082p3-d2-989 | Thyroid (1) | ESPE2014

Aetiology and Different Clinical Conditions of Hyperthyroidism in Children and Adolescents

Fadila Bouferoua , Zoulikha Zeroual , Saliha Tari , Nabila Bouterfas , Mokhtar Khiari Mohamed El , Houria Boukelal

Background: Hyperthyroidism is considered to be rare in children; it’s clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of patients diagnosed with hyperthyroidism.Results: 8 cases were identified between 2006 and 2013: 6F/2M, the patient&...

hrp0084p3-618 | Adrenals | ESPE2015

A CYP21A2 Gene Mutation in Patients with Congenital Adrenal Hyperplasia: Molecular Genetics Report from Saudi Arabia

Mohamed Sarar , El-Kholy Suzan , Al-Juryyan Nasir , Al-Nemri Abdulrahman M , Abu-Amero Khaled K

Background: Although the clinical presentations of congenital adrenal hyperplasia (CAH) have been studied in Saudi children, the literature review revealed no molecular report of 21-hydroxylase was published.Objective and hypotheses: The aim of this study was to determine the pattern of CYP21A2 gene-mutations of CAH in Saudi children.Method: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, ...