hrp0092p2-71 | Diabetes and Insulin | ESPE2019

The Effect of Different Forms of Maternal Dysglycemia on the occurrence of Neonatal Hypoglycemia in babies admitted to NICU.

TAWFIK SOLIMAN ASHRAF , Salama Husam , Al Rifai Hilal , Al-Obaidly Sawsan , Al Qubasi Mai , Olukade Tawa

Abstract: We report the effect of different forms of dysglycemia on the occurrence of neonatal hypoglycemia in a large cohort of pregnant women studied as a part of a PEARL-Peristat Study, funded by QNRF- Doha-QatarMethods: Out of 12255 pregnant women screened during 2016-2017, 3027 women were identified with gestational diabetes (GDM) (WHO criteria) and 233 were diabetic (DM) before pregnancy. All dysglycemic women were...

hrp0092p2-98 | Diabetes and Insulin | ESPE2019

Prevalence of Neonatal Macrosomia (NM) and Its Relation to Hypoglycaemia (NH) in Normoglycemic Versus Dysglycemic Pregnant Women.

SOLIMAN ASHRAF , Salama Husam , Al Rifai Hilal , Al-Obaidly Sawsan , Al Qubasi Mai , Olukade Tawa

Introduction: Several factors contribute to the risk of neonatal macrosomia (NM) and its associated hypoglycemia (NH) in pregnant women.Objective: To determine the prevalence of NM and its association with NH in a large cohort of normoglycemic and dysglycemic women.Methods: Out of 12255 pregnant women screened during 2016-2017, 3027 women were identified with gestational diabetes (...

hrp0084p3-983 | GH & IGF | ESPE2015

GH Therapy in Kuwait: First Report on Characteristics and Response in Treated Children

Al-Abdulrazzaq Dalia , Al-Basari Iman

Background: Recombinant GH (rGH) treatment is approved in many countries for treatment of short stature in a number of childhood diagnoses. rGH was first introduced in Kuwait in the 1990s. Since its introduction, there has been no reported data on the clinical profile of treated children. There is a huge gap in knowledge of use and response to Paediatric rGH therapy in Kuwait and the region.Objective and hypotheses: The objective of this study is to repo...

hrp0094p2-61 | Bone, growth plate and mineral metabolism | ESPE2021

Experience of 6-months of burosumab therapy in five siblings with X-linked hypophosphataemic rickets in the State of Kuwait

Shammari Sameer Al , Enezi Ayed Al , Sameer George , Fawzy Nagla ,

Background: X-linked hypophosphataemic rickets (XLH) is a genetic disorder, characterized by hypophosphatemia and caused by a mutation in the phosphate regulating endopeptidase homolog, X-linked (PHEX) gene which leads to overexpression of fibroblast growth factor 23 (FGF23).1,2 Conventional therapy, supplementation with oral phosphate and vitamin D analogs, does not treat the underlying cause of the disorder and is associated with poor treatment ad...

hrp0089p2-p275 | Growth & Syndromes P2 | ESPE2018

Growth of Infants Born by Intracytoplasmic Sperm Injection (ICSI) Technique

Eldakrouri Ahmed Farouk , Ali Hamdy Alsayed , Alrifai Hilal , Soliman Ashraf

Due to recent scientific progress in assisted reproductive techniques (ART), infertile couples can now become fertile. Thus, a number of infants in our country are the results of these costly interventions. This study has been undertaken to evaluate the physical growth of ART infants using standard growth charts from birth until 18 months of age.Methods: We measured the anthropometric data of 100 infants newborns conceived through ART intracytoplasmic sp...

hrp0094p2-91 | Bone, growth plate and mineral metabolism | ESPE2021

Two-year experience of burosumab therapy in pediatric XLH patients in Saudi Arabia

AlJuraibah Fahad , Aldubayee Mohamed , Alsagheer Afaf , Shaikh Adnan Al ,

Background: X-linked hypophosphatemia (XLH) is a rare, often debilitating genetic disorder caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) that is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal deformities, and growth impairment.1,2 Conventional therapy with the combination of phosphate and active vitamin D is associated with poor treatment adh...

hrp0097p2-274 | Late Breaking | ESPE2023

Familial Chylomicronaemia Syndrome; A Challenging Condition in Pre-School Aged Children.

Alsaffar Hussain , Al-Battashi Sultan , Al-Kindi Fatima , Al-Shidhani Azza , Al-Farsi Nouf , Al-Rawahi Yusriya , Al-Waili Khalid

Introduction: Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in the accumulation of chylomicrons in plasma and therefore hypertriglyceridemia. Elevated triglycerides (TG) cause several complications, the most serious one is recurrent pancreatitis. The mainstream of management is a fat-restricted diet, followed by supplementing with Omega-3 fatty acids. Fenofibrate, and statin...

hrp0097p2-281 | Late Breaking | ESPE2023

Monogenic Causes of Early-Onset Obesity in Saudi Pediatric Patients: A Retrospective study.

Al-Sagheir Afaf , Al-Zahrani Asma'a

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to e...

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...

hrp0092p3-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Case Study of X-linked Hypophosphataemia: The Effect of Conventional Therapy from Childhood to Adulthood in Saudi Arabia

Al-Sagheir Afaf

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, therapy includes daily oral phosphate and active vitamin D analogue (alfacalcidol or calcitriol) supplementation, but is associated with gastrointestinal side...