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...

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...

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...

hrp0092p3-203 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Anapylaxis Secondary to Gonadotrophin Releasing Hormone Agonist used for Precocious Puberty, Two Case Reports

Al Shaikh Hala

Gonadotrophin Releasing Hormone agonists (GnRHa) are used in the management of true precocious and early onset puberty. They have been associated rarely with severe adverse effects such as slipped capital femoral epiphysis, sterile abscess formationand anaphylaxis. Anaphylactic reactions had been reported at a low incidence rate. They can occur early or late after starting treatment or be recurrent after an injection due to the analogue's long half-life.The allergic reacti...

hrp0092p3-297 | Late Breaking Abstracts | ESPE2019

Liver Transplantation in Saudi Homozygous Familial Hypercholesterolemia Patients

Al-Ashwal Abdullah , Al-Mansour Salman , Al-Shagrani Mohammed , Al-Gofi Talal , Breuring Dieter

Introduction: Patients with homozygous familial hypercholesterolemia (HoFH) suffer from this disorder from birth and they have abnormally high cholesterol levels due to a disease that has autosomal dominant inheritance of genetic aberrations in the coding region for low density lipoprotein receptors (LDLR) in more than 90% of cases, other gene defect includes mutations in apolipoprotein B100 (apoB100) and proprotein convertase subtilisin/kexin type 9 (PCSK...

hrp0089p3-p174 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Congenital Hyperinsulinism and Maple Syrup Urine Disease a Challenging Combination

Shidhani Azza Al , Murshedi Fathiya Al , Yaarubi Saif Al , Thihli Khalid Al , Ullah Irfan

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy, characterized by unregulated insulin secretion. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease like Maple syrup urine disease (MSUD) adds more challenges to the already complex management.Case: We report a term male neonate with uneventful birth ...

hrp0082p3-d2-719 | Diabetes (1) | ESPE2014

Arabic Translation and Validation of the Newest Vital Sign Health Literacy Tool: a Pilot Project to Test Health Literacy of Caregivers of Children with Type 1 Diabetes in Kuwait

Al-Abdulrazzaq Dalia , Al-Haddad Muneera , AbdulRasoul Majedah , Al-Basari Iman , Al-Taiar Abdulla

Introduction: Health literacy is a recognized concept in diabetes care. The newest vital sign (NVS) is an English instrument established to test health literacy using a nutrition label. No studies looked into health literacy in the Arab world. Our aim is to translate and validate the NVS tool to Arabic then test it on a pilot of Arabic-speaking caregivers of children with type 1 diabetes.Methods: i) Production of the Arabic version: the English version o...

hrp0094p2-276 | Growth hormone and IGFs | ESPE2021

Growth Hormone Resistance; The Iraqi experience

Al-Jumaili Ali ,

Introduction: Primary growth hormone resistance or growth hormone insensitivity syndrome (Laron syndrome) is an autosomal recessive disorder caused by deletions or mutations in the growth hormone receptor gene or by post receptor defects. Laron is characterized by a clinical appearance of sever growth hormone deficiency with high levels of growth hormone in contrast to low insulin-like growth factor 1 values and in this cases are refractory to both endogenous ...