hrp0094p2-96 | Bone, growth plate and mineral metabolism | ESPE2021

HDR Syndrome (Barakat Syndrome): Case Report

Magdy Omar Omneya ,

Introduction: Barakat Syndrome (HDR Syndrome) components are hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated with deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: An 11 years old female, was born to non-consanguineous parents. She came to an emergency department complaining of the occurrence of one attack of tonic convulsion...

hrp0092p3-41 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Myelofibrosis in Severe Vitamin D Deficiency Rickets: A Case Report

Magdy Omar Omneya , Hamed Amira

Background: Vitamin D deficiency is prevalent in infants and children in underdeveloped countries. Secondary myelofibrosis has been reported as a complication of severe rickets and in these children anemia, myeloid metaplasia and bone aplasia strongly suggested myelofibrosis.Case report: We report a case of myelofibrosis in two years old boy with severe vitamin D deficiency rickets and hepatosplenomegaly. He presented wi...

hrp0092p3-73 | Diabetes and Insulin | ESPE2019

The Prevalence of Hypertension and its Relationship to Glycemic Control in Children with Type 1 Diabetes Mellitus

Khater Doaa , Omar Magdy , Abozaid Heba

Background: Type 1 diabetes (T1DM) is a chronic disease with many chronic complications as nephropathy, retinopathy and neuropathy or macrovascular complications as coronary artery disease and peripheral vascular disease due to the effects of hyperglycemia and dyslipidemia on vascular endothelial function. Moreover, in patients with T1DM, hypertension (HTN) is a significant contributor to the development of both micro- and macrovascular complications.<p cl...

hrp0089p2-p372 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Assessment of the Gonadotrophin–Gonadal Axis and Sertoli Cell Function in Partial Androgen Insensitivity Syndrome

Khater Doaa , Omar Magdy , Raafat Shaymaa

Androgen insensitivity syndrome (AIS) is the largest single entity that leads to male under-masculinization. Although adequate serum concentrations of testosterone exclude a defect in testosterone biosynthesis, a low testosterone value at baseline does not always exclude PAIS. Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance or factor, is secreted in high amounts by the immature Sertoli cell; it is negatively regulated by testosterone.<p c...

hrp0095p2-299 | Thyroid | ESPE2022

Chronic urticaria associated with Hashimoto’s thyroiditis : A case report

Magdy Omar Omneya , Samir Omar Salma , Adel Haleem Abo Elwafa Reham , Magdy Omar Eman

Introduction: Thyroid autoimmunity in chronic urticaria is a growing process and maybe manifested before concomitant with, or several years after the appearance of the urticaria. The association of chronic urticaria with autoimmune thyroid disease has frequently been reported in adults. Limited cases have been reported in children.Case Report: Here we describe an eleven years old girl. Who was born to non-consanguineous ...

hrp0095p2-253 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Clinical characteristic and testicular function in children with 46 XY disorder of sex development in a developing country

Khater Doaa , Raafat Shaymaa , Badawy Haytham , Omar Magdy

Disorders of sex development (DSD) comprise a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo resulting in relatively rare conditions having diverse pathophysiology. The aim of the current work is to study the clinical characteristics and testicular function of patients with 46 XY DSD. A cross-sectional study was done included children with initial presentation of atypical genitalia and satisfied th...

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...

hrp0089p2-p038 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

The Effect of Vitamin D Receptor Polymorphism on Bone Mineral Density in Egyptian Patients with Beta Thalassemia Major

Aly Abbassy Hadeer , Abdel Haleem Abo Elwafa Reham , Magdy Omar Omneya , Emadeldin Nassar Aliaa

Background: Beta thalassemia major (BTM) is considered a major health problem. Despite optimal conventional treatment, bone disease comprising of low bone mineral density (BMD), bone pain, and fractures is still a characteristic feature of thalassemia. The etiology of bone disease in thalassemia is multifactorial. vitamin D receptor (VDR) mediates the action of 1,25(OH)2D, The VDR genetic variations may be responsible for modifying the activity of VDR protein.<p class="abs...

hrp0089p2-p375 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Could Basal AMH Replace hCG Stimulation Test in XY Disorder of Sex Development Cases

Elsayed Shaymaa Raafat , Abdo Magdy Omar , Badawy Haytham Elmetwaly , Abbassy Hadeer Aly , Yaseen Duaa Khatter

Background: Traditionally, the standard endocrinological evaluation of 46, XY DSD cases is based upon measurement of testosterone, dihydrotestosterone and androstenedione and their ratios either in mini-puberty or under human chorionic gonadotropin (hCG) stimulation. However, this method is of limited value in reaching definite diagnosis in many cases. More recently, there is a growing appreciation of the value of assessing Sertoli cell function because the most active compart...