hrp0089p2-p038 | Bone, Growth Plate & 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...

hrp0092p2-87 | Diabetes and Insulin | ESPE2019

Glycemic Control in Egyptian Adolescent Girls with Type 1 DM

Shaalan Yomna , Badawi Nora , Soliman Aliaa

Background: Adolescents with Type 1 Diabetes (T1D) have worse metabolic control than preadolescent children due to poor adherence with medications and insulin resistance related to puberty hormones. Adolescent girls are at a particular risk for poor control as insulin sensitivity decreases in the luteal phase and menstrual cycle. Progesterone, secreted in the second half of the cycle, may cause an increase in appetite and caloric intake....

hrp0082p2-d3-438 | Growth Hormone (2) | ESPE2014

Does Priming with Sex Steroids Before GH Stimulation Test Increase the Diagnosis of Normal GH Secretion in Short Children?

Soliman Ashraf , De sanctis Vincenzo , Elgaali Elkhansa , Ahmed Hannah , Sabt Aml , Nassar Randa

Introduction: There is still controversy for priming with sex steroid before GH testing.Objective and hypotheses: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (HtSDS −2). They were divided randomly into two groups. Children in group 1 (n=50) were primed with premarin in girls and testosterone in boys and those in group 2 were not primed (n=42). All children were tested using stand...

hrp0095t14 | Section | ESPE2022

CCDC149: a Novel Gene Associated with Multiple Pituitary Hormone Deficiency

Rath Shoshana , Elias-Assad Ghadir , Abozaid Said , Nasser Samra Nadra , Mandel Hannah

Background: Idiopathic hypogonadotropic hypogonadism (HH) is highly genetically heterogeneous. To date, about 50 causative genes have been identified, estimated to account for up to 50% of hereditary cases. With next generation sequencing (NGS) technology now in wide clinical use, it is increasingly possible to determine the underlying genetic etiology of isolated and combined pituitary hormone deficiencies.Objective: We...

hrp0092p1-222 | GH and IGFs (1) | ESPE2019

A Patient with a Novel Homozygous Mutation in IGF1-R Gene and Response to Growth Hormone Therapy

Nasser Al Shidhani Azza , Al-Kindi Adila , Ullah Irfan , Al Saffar Hussein , Al Yaarubi Saif

Background: There are multiple factors affecting fetal growth, including maternal, fetal, placental and other environmental factors. Insulin like growth factor-1 ( IGF-1) has a major role in promoting fetal and post-natal growth. It is also proven that IGF1 promote brain, inner ear and retinal development.Case: We report a 9-years old boy born at 31 weeks of gestation to a consanguineous parents by cesarean section for s...

hrp0089p1-p203 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Serum Concentrations of the Endocrine Disruptors-organochlorine Pesticides (OCPs) in Greek Children with Neurodevelopmental Disorders

Makris Gerasimos , Chrousos George , Sabico Shaun , Abd-Alrahman Sherif , Al-Daghri Nasser , Chouliaras George , Pervanidou Panagiota

Background: The exposure to environmental toxicants has been estimated to contribute directly to 3% of human neurodevelopmental disabilities (NDDs). Organochlorine pesticides (OCPs), which are widespread persistent organic pollutants, have been implicated mainly because of their endocrine disruptive nature. Several studies have reported the above relations between maternal serum, the placenta barrier and the breast milk levels of OCPs and NDDs.Aim: The a...