hrp0098p2-109 | Fat, Metabolism and Obesity | ESPE2024

Single-center experience in using a once weekly Semaglutide injection in adolescents with obesity +/- Type 2 diabetes

Dauleh Hajar , Amin Rasha , Pasha Maheen , Gad Hoda , Elshareif Tamara , Khalifa Amel , Petrovski Goran , Ahmed Elwaseila , Mohamadsalih Ghassan , Chirayath Shiga , Albureshad Khalid , Ibrahim Marwa , Campbell Judith , Hamdan Manar , Almajaly Douha , Umer Fareeda , Albahri Aya , Isamil Fatima , Saeed Sara , almasarweh Hadeel , cuatrona Erlinda , Biglangawa Roshirl , Inso Gina , Aler Joanna , A.Eyalawwad Ayah , Malik Rayaz , Hussain Khalid

Background: Childhood obesity presents a significant global health concern, leading to long-term morbidity and mortality. While lifestyle interventions remain fundamental, pharmacological approaches, particularly using glucagon-like peptide-1 (GLP-1) receptor agonists, show promise in certain patient populations. However, studies exploring this avenue, particularly in the Middle East and North African region, are limited. This study aims to share our experienc...

hrp0089p1-p079 | Diabetes & Insulin P1 | ESPE2018

A Novel SLCA16A1 Mutation in an Infant with Hypoglycemia and Severe Metabolic Ketoacidosis

Hasnah Reem , Al-Khawaga Sara , Saraswathi Saras , Haris Basma , Saeed Amira , Sharari Sanaa , Mohammed Idris , Hussain Khalid

Background: Recurrent episodes of ketoacidosis with or without hypoglycemia have been reported with homozygous or heterozygous mutations in the solute carrier family 16 member 1 (SLC16A1) gene. This gene encodes for the monocarboxylate transporter 1 (MCT-1) which plays a key role in lactate, pyruvate and ketone body transport.Objective(s): To describe the youngest patient with a novel SLC16A1 gene who presented with recurrent episodes of ketoacidosis and...

hrp0089p2-p281 | Growth & Syndromes P2 | ESPE2018

A Novel Mutation in the SLC2A2 Gene in a 19-Year-Old Female with Diabetes Mellitus and Renal Tubular Acidosis: A Therapeutic Conundrum

Sharari Sanaa , Al-Khawaga Sara , Hasnah Reem , Saraswathi Saras , Haris Basma , Saeed Amira , Mohammed Idris , Malik Riyaz , Hussain Khalid

Background: Mutations in the SLC2A2 gene are implicated in Fanconi-Bickel syndrome (FBS). This is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner characterized by hepato-renal glycogen accumulation, impaired glucose and galactose utilization, and proximal renal tubular dysfunction. The world-wide frequency of Fanconi-Bickel syndrome is not known, though the disease is considered to be rare in which a little more that 100 cases ...

hrp0089p3-p238 | Growth & Syndromes P3 | ESPE2018

Hypothyroidism and Growth Hormone (GH) Deficiency, a Spotlight on De Novo Chromosomal 20p11.2 Deletion

Mohammed Idris , Al-Khawaga Sara , Hannah Reem , Saraswathi Saras , Haris Basma , Saeed Amira , Shararri Sanaa , Hussain* Khalid

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

hrp0095p1-383 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Study of Quality of Life among Children with Congenital Adrenal Hyperplasia at Alexandria University Children’s Hospital

Elsayed Shaymaa , Gharib Bayoumi , Beshir Hala , Saeed Marwa

Introduction: Quality of life (QoL) is a complex concept with multiple aspects as cognitive and emotional functioning; psychological well-being; general health; physical functioning; and social well-being and functioning. Stressors that appear with cases of Congenital adrenal Hyperplasia (CAH) vary and can present challenges to shared decision making with healthcare providers. Day-to-day care of a chronically ill child affects family finances and dynamics, as ...

hrp0095lb6 | Late Breaking | ESPE2022

A case series of two adolescent diabetic siblings due to novel mutation in CFAP126

Aftab Sommayya , Nadeem Anjum Muhammad , Saeed Anjum , Arshad Cheema Huma

Background: CFAP126 gene does play a role in the regulation of pancreatic beta cell. Literature suggests that CFAP126 was significantly downregulated in human islet cells of pre-diabetic as compared to non-diabetic and further downregulated in type 2 diabetics. However, to date CFAP126 has not been reported to cause clinical diabetes. We are reporting 2 diabetic siblings, with strong family history of type 2 diabetes on maternal side...

hrp0094p2-39 | Adrenals and HPA Axis | ESPE2021

Clinical spectrum of congenital adrenal hyperplasia due to 3 beta hydroxysteroid dehydrogenase deficiency; A case series

Shaheen Tahir , Aftab Sommayya , Nadeem Muhammad , Saeed Anjum , Arshad Huma ,

Background: In adrenal gland 3β-HSD2 catalyses the conversion of Δ5 to Δ4 steroids (i.e., pregnenolone to progesterone,17 α-hydroxypregnenolone to 17-OHP and DHEA to androstenedione). Defect in this enzyme can affect glucocorticoid, mineralocorticoids and sex steroid synthesis but the clinical and biochemical profile can be very complicating and confusing due to conversion of intermediate steroids to more ac...

hrp0098p3-85 | Fat, Metabolism and Obesity | ESPE2024

A novel GPIHBP1 mutation of chylomicronemia syndrome: A case report:

Alshahrany Aabdullah , Alshahrani Abdulmajeed , Alshahrani Amal , Saad Saeed Omer

Background and aims: GPIHBP1 is an accessory protein of lipoprotein lipase (LPL) essential for its functioning. Mutations in the GPIHBP1 gene cause a deficit in the action of LPL, leading to severe hypertriglyceridemia and increased risk for acute pancreatitis.Methods: We describe one patient (three years and seven months old boy) with a novel homozygous Missense mutation in GPIHBP1 gene with cDNA change c.422G>T, Ami...

hrp0092rfc7.1 | Diabetes and Insulin Session 2 | ESPE2019

Accuracy of Glucose Sensor Estimate of HbA1c in Children with Type 1 Diabetes

Ehtisham Sarah , Adhami Sara

Introduction: Glucose sensor usage is increasing in the paediatric type 1 diabetes population. The sensor downloads can provide valuable information about glycaemic levels over a 90-day period and generate an estimated HbA1c based on the average glucose level.Aim: We aimed to test whether the sensor-estimated HbA1c over 90 days was an accurate prediction of the measured HbA1c and whether its accuracy correlated with perc...

hrp0086p2-p316 | Diabetes P2 | ESPE2016

Cystic Fibrosis Related Diabetes

Banjar Hanaa , AlBanyan Sara

Background: Cystic fibrosis-related diabetes (CFRD) is the most common co-morbidity in association with cystic fibrosis. Cystic fibrosis related diabetes is predominantly an insulin deficiency state it shares features of both type 1 and type 2 diabetes, yet there are important differences, which necessitate a unique approach to diagnosis and management. Development of cystic fibrosis related diabetes is associated with a worse lung function, poorer nutritional status, and more...