hrp0094p2-384 | Pituitary, neuroendocrinology and puberty | ESPE2021

Basal LH as a screening test for diagnosis of central precocious puberty

Raafat Shaymaa , Abdelmeguid Yasmine , Fawzy Dina ,

Introduction: Central precocious puberty (CPP) refers to the development of secondary sex characteristics before ages 8 and 9 years in girls and boys, respectively. It is either due to organic brain lesion or idiopathic. Conventionally, Gonadotropin Releasing Hormone (GnRH) stimulation test is a mainstay tool for diagnosis of central precocious puberty in pediatrics. However, it is time consuming and expensive. Therefore, this study was aiming to find an alter...

hrp0097p2-224 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Spectrum of phenotypic features variation in XY DSD patients with NR5A1 mutation: case series

Raafat Shaymaa , Abdalla Ebtesam , Waheeb Saber

Background: Disorder of sex development (DSD) includes a wide spectrum of clinical disorders affecting gonadal and genital development. Many causative gene mutations are involved in these disorders. One of these genes is nuclear receptor subfamily 5 group A member 1 (NR5A1) encoding Steroidogenic factor-1 (SF-1) located on chr 9q33.3. This gene is expressed in many tissues such as Sertoli cell and Leydig cell in testes, ovaries, placenta, adrenal cortex, hypot...

hrp0094p2-127 | Diabetes and insulin | ESPE2021

Thiamine-responsive megaloblastic anemia: a rare presentation of an uncommon disease!

Abdelmeguid Yasmine , Elsayed Shaymaa , Raafat Shaymaa , Fawzy Dina , Mohi El-Din Mahmoud , Kersh El ,

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by a triad of megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus (DM). It is due to an inherited mutation in SLC19A2 gene, encoding a high-affinity thiamine transporter 1 in charge of facilitating the uptake of thiamine by the cells. Other manifestations including optic atrophy and stroke are rarely reported. We herein report an extremely rare...

hrp0084p2-286 | Diabetes | ESPE2015

Assessment of Ventricular Function by Tissue Doppler Echocardiography in Children and Adolescents with Type 1 Diabetes Mellitus

Abdelghaffar Shereen , Salah Nermeen , Attia Mona , Hafez Mona , Mamdouh Mona , Atef Abeer , Elmougy Fatma , Abdelaty Sahar , Ibrahim Amany , Mehawed Hend , Musa Noha , Arafa Noha , Farouk Marwa , Ismail Mohamed , Abdelaziz Faten , Fattouh Aya , Hussein Eman , Ghali Isis

Background: Tissue Doppler echocardiography can predict early stages and progression of diabetic cardiac changes; especially ventricular dysfunction, a complication that adversely affect the quality of life and prognosis of the disease.Objective and hypotheses: The aim of this study was to assess systolic and diastolic functions of both ventricles in type 1 diabetes (T1D) patients by conventional and Tissue Doppler echocardiography, and to correlate card...

hrp0086p1-p813 | Syndromes: Mechanisms and Management P1 | ESPE2016

Reconsideration of Mid-Parental Height Calculation

Bereket Abdullah , Bugur Ibrahin Sinan , Guran Tulay , Atay Zeynep , Ekberzade Azad , Gurbanov Ziya , Oge Ece , Tas Cektar Seyid Riza , Turan Serap , Furman Andrzej

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...

hrp0095rfc8.5 | Diabetes and Insulin | ESPE2022

Impact of type 1 diabetes on the epicardial fat thickness in children and adolescents

Raafat Shaymaa , Elashry Reham , Adel Hani , Wafa Ehsan

Introduction: Diabetes mellitus has been shown to be a major risk factor for development of early adult onset cardiovascular disease (CVD). Therefore, early detection and management of CVD became a major concern for health care providers. Epicardial fat thickness (EFT) is considered a new marker of visceral adiposity. The increased epicardial adiposity does not only increase the cardiovascular risk but also is considered an established risk factor for appearan...

hrp0095p1-260 | Diabetes and Insulin | ESPE2022

The association between Epilepsy and Diabetes mellitus diagnosed before 2 years of age

Abdelmeguid Yasmine , Mowafy Ehsan , Marzouk Iman , Elsayed Shaymaa

Introduction: Epilepsy or seizures are often observed in patients with diabetes mellitus (DM). Different types of seizures occur in approximately 25% of patients with DM. The exact cause remains undetermined. Moreover, a possible association between T1DM and epilepsy exists. Risk factors for epilepsy in T1DM include younger age at onset, recurrent hypoglycemia or DKA, and poor glycemic control.Aim of the work: The aim of...

hrp0095p1-452 | Diabetes and Insulin | ESPE2022

Limited genotype-phenotype correlation in FOXP3 gene within same family member

Sharaf Muna , Alaaraj Nada , Shurrab Shaymaa , Zangen David

Introduction: FOXP3 protein is crucial in enabling T-regulatory cells to maintain tolerance to self-antigens. Mutations in human Foxp3 gene are associated with immune diseases, such as multi-organ autoimmune disorder, immune dysregulation, polyendocrinopathy, enteropathy and X-linked syndrome (IPEX).Case Presentation: A 15 months old male, presented initially at 2 weeks of age with failure to thrive hyperglycemia and sev...

hrp0095p1-383 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Study of Quality of Life among Children with Congenital Adrenal Hyperplasia at Alexandria University Children’s Hospital

Elsayed Shaymaa , Gharib Bayoumi , Beshir Hala , Saeed Marwa

Introduction: Quality of life (QoL) is a complex concept with multiple aspects as cognitive and emotional functioning; psychological well-being; general health; physical functioning; and social well-being and functioning. Stressors that appear with cases of Congenital adrenal Hyperplasia (CAH) vary and can present challenges to shared decision making with healthcare providers. Day-to-day care of a chronically ill child affects family finances and dynamics, as ...

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...