hrp0092p2-112 | Fat, Metabolism and Obesity | ESPE2019

Identification of a Novel Heterozygous Missense Mutation in Low-density Lipoprotein Receptor Gene (LDLR) p.(Met652Thr) in an Emirati Family with Familial Hypercholesterolaemia (FH), Observed Genotype-phenotype Correlations and Pharmacotherapeutic Approaches

Al-Olabi Lara , Suliman Sara , Daggag Hinda

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

hrp0089p3-p254 | Growth & Syndromes P3 | ESPE2018

Woodhouse-Sakati Syndrome: Clinical and Molecular Study on a Qatari Family with C2orf37 Gene Mutation

Al-Khawaga Sara , Khalifa Amal , Hussain Khalid

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

hrp0082p3-d2-852 | Growth (3) | ESPE2014

Evaluation of Potential Waste of GH Across Available GH Pen Devices and an Electronic GH Delivery Device

Locklear JC , Edwards NC , Phillips AL

Background: Several somatropin products are available as pen and electronic devices. When administering the last dose from a device, patients may have an insufficient amount of GH remaining for a full dose.Objective and hypotheses: The aim of this analysis was to estimate the potential GH waste per patient with pen devices and the easypod® device, and to quantify the potential economic impact of expected GH waste from patient and health c...

hrp0095p2-62 | Diabetes and Insulin | ESPE2022

Time Trend and Potential Risk Factors for Celiac Disease Development in Children with Type 1 Diabetes Mellitus-10-year Single Center experience

Ahmed Fatima , Al Jneibi Sara , Rajah Jaishen , Chedid Krystel , Al Remeithi Sareea

Background: Celiac disease (CD) is an important association with type 1 diabetes (T1DM) with a significant impact on growth and glycaemic control. The frequency of coexistence of T1DM and CD is widely described, ranging from 2.5 to 16.4% in 23 studies worldwide, much greater than the general population risk of 1%. The risk of CD is higher among younger children (less than 4 years), females and during the first few years of T1DM diagnosis. Objectives: We aimed ...

hrp0092p3-20 | Adrenals and HPA Axis | ESPE2019

Short Synacthen Test in Children at Sultan Qaboos University Hospital; Reviewing the Sampling Times

Alsaffar Hussain , Alshafey Mohammed , Ullah Irfan , Al-Riyami Nafila , Alyaarubi Saif , Al-Shidhani Azza

Introduction: Primary adrenal insufficiency in paediatrics is uncommon but lethal condition, it results most commonly from congenital adrenal hyperplasia1. Short Synacthen Test (SST) is widely used to assess the glucocorticoid synthesis in the adrenal glands. Synacthen doses are age-based; 62.5mcg for babies younger than 6months, 125mcg for infants between 6-24months and 250mcg for children older than 2years. There is a controversy amongst endocrino...

hrp0084p3-618 | Adrenals | ESPE2015

A CYP21A2 Gene Mutation in Patients with Congenital Adrenal Hyperplasia: Molecular Genetics Report from Saudi Arabia

Mohamed Sarar , El-Kholy Suzan , Al-Juryyan Nasir , Al-Nemri Abdulrahman M , Abu-Amero Khaled K

Background: Although the clinical presentations of congenital adrenal hyperplasia (CAH) have been studied in Saudi children, the literature review revealed no molecular report of 21-hydroxylase was published.Objective and hypotheses: The aim of this study was to determine the pattern of CYP21A2 gene-mutations of CAH in Saudi children.Method: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, ...

hrp0084p3-748 | Diabetes | ESPE2015

Health Literacy of Caregivers of Children with Type 1 Diabetes: A Pilot Study on Impact on Glycaemic Control in an Arabic-Speaking Population

Al-Abdulrazzaq Dalia , Alhaddad Muneera , Al-fadhli Amani , Alyousef Amna , Altararwa Abeer , Albasari Iman

Introduction: Health literacy has been linked to poorer diabetes control and outcomes. Caregivers with poor health literacy may fail to comprehend various elements of diabetes education leading to poor glycaemic control of their children. No studies to date had investigated the link between caregiversÂ’ health literacy and their childrenÂ’s glycaemic control in an Arabic-speaking population.Objectives and hypothesis: Our aim is to study the link ...

hrp0084p3-751 | Diabetes | ESPE2015

Fasting the Holy Month of Ramadan in Older Children and Adolescence with Type 1 Diabetes in Kuwait

Mohamed Kholoud , Al-Abdulrazzaq Dalia , Busairi Eman El , Shawaf Faisal Al , Abdul-Rasoul Majedah

Background: Ramadan is the holy month of fasting for Muslims. New evolving technology in the treatment of type 1 diabetes (T1DM) had encouraged Muslim diabetics to pursuit the practice of fasting. There are limited data on fasting of children and adolescence with T1DM during the holy month.Objective and hypotheses: Our aim is to investigate the ability, effect and safety of children and adolescence with T1DM to fast the Holy Month of Ramadan 2014.<p ...

hrp0097p1-106 | GH and IGFs | ESPE2023

Growth Hormone (GH) Therapy in Children with short stature: A cross-sectional study of indication and treatment outcomes- 12-year single center experience

Al Jneibi Sara , Hammouri Marwa , Taha Fatima , Allami Zahraa , Weber Stefan , AlJubeh Jamal , Al Remeithi Sareea

Background: GH deficiency remains the main indication for GH therapy in children. GH therapy has subsequently been approved in the USA and Europe for other conditions resulting in short stature, including Turner Syndrome, being born small for gestational age with failure to attain normal growth, Prader-Willi Syndrome, chronic renal insufficiency, short stature homeobox-containing gene deficiency, and in the USA exclusively Noonan Syndrome and idiopathic short ...

hrp0092p2-67 | Diabetes and Insulin | ESPE2019

Periodontal Disease Among Children and Adolescents with Type 1 Diabetes Mellitus

Babiker Omer , Osuji Oliver , Qudah Mansour , Al Brahim Nahla

Periodontal disease is defined as inflammation within the supporting tissues of the teeth, progressive attachment loss, and bone loss. It results from an extension of inflammation from the gingiva into deeper periodontal tissue. Periodontal disease is well studied among the adult population. Diabetes mellitus is considered as one of its risk factors among adults. We conducted this cross-sectional pilot study to investigate the association of periodontal disease and metabolic c...