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...

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 ...

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...