hrp0098p1-128 | Diabetes and Insulin 3 | ESPE2024

EFFICACY AND SAFETY OF THE TANDEM T:SLIM X2 WITH CONTROL-IQ AUTOMATED INSULIN INCHILDREN WITH TYPE 1 DIABETES PREVIOUSLY TREATED WITH MULTIPLE DAILY INSULIN INJECTIONS

Alsagheir Afaf , Bin-Abbas Bassam , Alsagheir Razan , Alhuthil Raghad , Aljuwair Aseel

Background and Aims: Insulin pump therapy may o"er superior glycemic control compared to multiple daily injections (MDI) in specific populations. Closed-loop insulin delivery systems show promise but have limited data in the Saudi pediatric and young adult populations. This study aimed to evaluate the e#cacy of insulin pump therapy in children with type 1 diabetes previously treated with multiple daily injections.Methods:</s...

hrp0094p2-154 | Diabetes and insulin | ESPE2021

Neonatal Diabetes Secondary to Isolated Pancreatic Agenesis

Bakhamis Sarah , AlSagheir Afaf ,

Background: Pancreatic agenesis has been reported as a cause of neonatal diabetes. Most commonly it was associated with severe neurodevelopmental problems caused by homozygous mutations in the transcription factor PTF1A. Isolated pancreatic agenesis was related to biallelic mutations in an enhancer located near PTF1A gene, which suggests that the enhancer is tissue specific to the pancreas. PDX1 is another transcription factor gene in which biallelic mutation ...

hrp0092p2-15 | Adrenals and HPA Axis | ESPE2019

Rare Causes of Primary Adrenal Insufficiency at King Faisal Specialist Hospital -Retrospective Study

Alsagheir Afaf , Alotaibi Mohammed , Alrayes Lamya

Introduction:• Adrenal insufficiency is a rare, but potentially fatal medical condition 1.• In children, the cause is most commonly congenital adrenal hyperplasia (CAH) but in recent years a growing number of causative gene mutations have been identified resulting in syndromes that share primary adrenal insufficiency (PAI) characteristics.<p cl...

hrp0094p1-196 | Thyroid B | ESPE2021

Clinical and Molecular Presentation of Congenital Hypothyroidism Caused by Thyroglobulin Gene Mutations

Bakhamis Sarah , AlSagheir Afaf , AlShareef Itizan ,

Background: Congenital hypothyroidism (CH) characterized by a deficient secretion of thyroid hormone in newborn. It is the most common endocrine disease in the children with an incidence rate about 1: 3000 live births in Saudi Arabia. Thyroid dysgenesis and dyshormonogenesis are the most common causes. Thyroid dyshormonogensis commonly inherited as autosomal recessive disorders. Although Thyroglobulin followed by TSHR mutations are the most common genetic defe...

hrp0097lb9 | Late Breaking | ESPE2023

Clinical Characteristics and Long-Term Management for Patients with Vitamin D-dependent Rickets Type II: A Retrospective Study in Saudi Arabia

Binladen Amal , Alsagheir Afaf , Alhuthil Raghad

Background: Hereditary Vitamin D-Resistant Rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) resulting in end organ resistant to 1a,25-dihydroxyvitamin D, [1,25(OH)2D]. Majority of HVDRR has Elevated 1, 25(OH)2D which is a hallmark for diagnosis of this disease. High doses of vitamin D, oral calcium and most importantly IV calcium infusion are the mode of therapy in HVDRR.A...

hrp0086p1-p116 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Clinical and Molecular Characterization of 25-Hydroxylase Deficiency in Saudi Patients

Imtiaz Faiqa , Bakhamis Sarah , AlSagheir Osamah , AlRajhi Abdulrahman

Background: Vitamin-D deficiency becomes a worldwide issue, and major cause of rickets in younger age groups. Multiple causes lead to vitamin-D deficiency in which nutritional causes contribute the major factor. The synthesis of bioactive vitamin-D requires hydroxylation at 1α and 25 positions by cytochrome-P450 in the kidney and liver, respectively. Recently, human CYP2R1 has been reported as a major factor for 25-hydroxylation, in which it contributes for the inherited ...

hrp0089p3-p032 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

A Novel Homozygous Mutation in the CASR Gene in a Neonate with Severe Primary Hyperparathyroidism; A Case Report

Alqadi Ali , Raboei Enaam , Ghafouri Abdullah , Alguthami Albandari , Alghanmi Razan

Background: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 23900) is a potentially lethal autosomal recessive disorder characterized by severe hypercalcemia, markedly elevated serum PTH levels and skeletal abnormalities that include multiple fractures, demineralization and erosions. It is secondary to biallelic loss of function mutation in the CASR gene that encodes the calcium sensing receptor.Case presentation: We identified a 10-day old baby ...

hrp0097p1-378 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Infant with 45, XO DSD presented with Li Fraumeni syndrome, a case report from Kuwait.

Alfadhli Maryam , Alhenaidi Razan , Elshafie Reem , Alkandari Hessa , Alhomaidah Doha

Background: X-chromosome monosomy is the most common sex abnormality in females, with a higher prevalence of cancer than the general population. Virilizing adrenocortical tumors are rarely seen in patients with Turner’s Syndrome. There have been 2 reported cases of simultaneous TP53 mutations (Li Fraumeni’s syndrome) and Turner’s syndrome. Here we report first case with this rare association from Kuwait.Clinical...

hrp0098p2-365 | Late Breaking | ESPE2024

The Diagnostic Yield of Exome Sequencing in Idiopathic Short Stature

Aljazaeri Sara , Alrubeh Zahra , Alabdi Lama , Alhuthil Raghad , Alsagheir Afaf , Alkuraya Fowzan

Background: Most children with short stature (SS) remain without a clear diagnosis despite extensive workup and are thus classified as idiopathic short stature (ISS). Whole exome sequencing (WES) in particular, has become a revolutionary approach in identifying monogenic causes of growth disorders. Therefore, this study aims to determine the diagnostic yield of WES in identifying the genetic etiology in children with ISS.Methods:...

hrp0098p3-38 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Burosumab Effectiveness on Pediatric Patients with X-Linked Hypophosphatemic Rickets: A Prospective Single-Center Study

Aletani Lujain , Alsagheir Afaf , Aljaser Alhanouf , Alhuthil Raghad , Alghamdi Nujud , Alturki Haifa

Background: Traditionally patients with X-linked Hypophosphatemic Rickets (XLH) have been treated with conventional therapy, however, in 2018, the FDA approved Burosumab use in XLH patients.Objective: To investigate Burosumab effectiveness on pediatric patients with XLH by observing an improvement in serum phosphorus concentration and total rickets severity score (RSS) within 12 months period.<stro...