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...

hrp0082p2-d2-331 | Diabetes (1) | ESPE2014

ACE Gene Insertion/Deletion Polymorphism and ACE Enzymatic Activity in Egyptian Children with Type 1 Diabetes with and without Microalbuminuria

Anwar Ghada , Bazaraa Hafez , Shaker Olfat , Arafa Noha , Hafez Mona , Mousa Noha

Background: Diabetic nephropathy is a major cause of morbidity and mortality among young adults with type 1 diabetes mellitus. Strong evidence exists in multiple studies for genetic predisposition of diabetic nephropathy. Genetic studies have revealed that the genes for the renin–angiotensin system (RAS) are highly polymorphic, one of such is insertion/deletion polymorphism in ACE gene. This polymorphism was associated with the circulating ACE level and increased plasma a...

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...

hrp0082p3-d1-811 | Growth | ESPE2014

A Novel GHR Mutation, c.439+1g>a; in a Family with Laron Syndrome

Attia Mona , Abeer Atef , Makarem Ibrahim , Donaldson Malcolm , Metherell Lou , Tawfik Sameh , Dowedar Wafaa

Background: Mutations in the human GH receptor gene (GHR) are the most common cause of GH insensitivity (GHI) syndrome and IGF1 deficiency. The extracellular domain of GHR (encoded by exons 2–7 of the GHR gene) can be proteolytically cleaved to circulate as GH-binding protein.Objective: To evaluate the cause of classical GHI (Laron) phenotypes in two siblings and their parents.Method: We observed clinical characteristics of tw...

hrp0084p2-364 | Fat | ESPE2015

Evaluation of Acylated Ghrelin and Obestatin Levels and Ghrelin:Obestatin Ratio in Obesity

Razzaghy-Azar Maryam , Nourbakhsh Mitra , Pourmoteabed Abdolreza , Nourbakhsh Mona , Illbeigi Davoud , Arab Zahra

Background: Ghrelin is 28-amino acid peptide predominantly produced by the stomach and have an orexigenic property as well as potent GH-releasing activity. Acylated ghrelin (AG) is the active form of this hormone. Obestatin is a 23-amino acid peptide, is produced by post-translational modification of a protein precursor that also produces ghrelin. Obestatin has the opposite effect of ghrelin on food intake.Objective and hypotheses: To evaluate acylated g...

hrp0084p3-724 | Diabetes | ESPE2015

Study of Adiponectin Level in Diabetic Adolescent Girls in Relation to Glycaemic Control and Complication of Diabetes

Dayem Soha Abd El , Nazif Hayam K , Kader Mona Abd El , El-Tawil Maha , Battah Ahmed

Objective: To determine the influence of adolescent girls with type 1 DM on circulating levels of adiponectin and to study the relation between adiponectin level with glycemic control and complication of diabetes.Patients and methods: The study included 40 female adolescent type 1 diabetic patients and 40 healthy volunteer of the same age and sex. Blood sample was taken for assessment of glycosylated haemoglobin, lipid profile and adiponectine. Urine sam...

hrp0084p3-779 | Diabetes | ESPE2015

Effects of Educational Interventions for Children and Adolescents with Type 1 Diabetes Mellitus

Atef Abeer , Attia Mona , Ibrahim Amany , Ibrahim Shaimaa , Dowidar Wafaa , Tawfik Sameh

Background: Is to evaluate of the quality of the current education program for diabetic children and their parents at Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU).Objective and hypotheses: Is to evaluate of the quality of the current education program for diabetic children and their parents at DEMPU.Method: The present study was an observational longitudinal study conducted on 100 cases of T1D admitted in DEMPU inpatien...

hrp0094p1-37 | Fat, Metabolism and Obesity A | ESPE2021

The effect of trans-palmitoleic acid on lipid accumulation and the fatty acid synthase gene expression in hepatocytes

Nourbakhsh Mitra , Farokh-Nezhad Ramesh , Razzaghy-Azar Maryam , Sharifi Roya , Yaghmaei Parichehreh , Nourbakhsh Mona ,

Introduction: Obesity is among the most prevalent health problems and is associated with increased risk of various metabolic disorders, including type 2 diabetes and non-alcoholic fatty liver disease (NAFLD). Fatty acids comprise a major part of the lipids and have remarkable effect on cell biology. Trans fatty acids (tFAs) are generally a by-product of manufacturing of fats. However, naturally-produced tFAs that are found in milk and dairy products, are sugge...

hrp0094p2-167 | Diabetes and insulin | ESPE2021

Blood level of Vitamin D and metabolic control of type 1 diabetes mellitus

Razzaghy-Azar Maryam , Nourbakhsh Mona , Nourbakhsh Mitra , Abdiaei Erfan , Abdiaei Hossein ,

Background: There are some studies about vitamin D level and type 1 or type 2 diabetes mellitus (DM). Its effect on metabolic control of patients with type 1 DM is the subject of this study.Patients and Method: In 339 patients with type 1 DM, 192 cases (99 males, 93 females) randomly enrolled in the study. The age of males was 9 ± 4.4 yr and age of females was 8.3±4.3 yr. Their HbA1C and 25(OH) D3 were measured by HPLC method. ...

hrp0097rfc14.6 | Late Breaking | ESPE2023

Enhanced histones acetylation in children with obesity: relationship with insulin resistance and inflammation

Nourbakhsh Mitra , Nourbakhsh Mona , Razzaghy-Azar Maryam , yousefi Zeynab , Hasan Maleki Mohammad , Taheri Alemeh

Introduction: Widespread changes occur in gene expression in obesity, contributing to metabolic and inflammatory abnormalities. Epigenetic mechanisms play a role in obesity by altering gene expression patterns, and connecting environmental factors to genetic alterations. Histone acetylation is a crucial epigenetic modification that impacts chromatin structure and regulates gene expression. Adipogenesis has been associated with gene-specific increases in histon...