hrp0098p1-35 | Diabetes and Insulin 2 | ESPE2024

Diabetes Mellitus in Woodhouse -Sakati syndrome

Amin Rasha , Khalifa Amel , Petrovski Goran , Mohammed Elwaseila , Dauleh Hajar , Haris Basma , Chirayath Shiga , Mohamadsalih Ghassan , Al Bureshad Khalid , Ibrahim Marwa , Hussain Khalid

Background: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. Diabetes mellitus is one endocrine manifestation but there are no comprehensive data on the epidemiology, clinical features, underlying mechanisms, and management, particularly within the Qatari population.Methods: This retrospective study wa...

hrp0098fc6.1 | Fat, Metabolism and Obesity 1 | ESPE2024

Corneal Nerve Loss and regeneration after GLP-1 Therapy in Children with Simple and Monogenic Obesity

Gad Hoda , Dauleh Hajar , Chirayath Shiga , Amin Rasha , Mohamadsalih Ghassan , Pasha Maheen , Mohammed Idris , Al-Barazenji Tara , Khalifa Amel , Petrovski Goran , Hamdoun Elwaseila , Al Bureshad Khalid , Ibrahim Marwa , A. Malik Rayaz , Hussain Khalid

Background: Obesity is highly prevalent in the MENA region, especially in children and it has been associated with neurodegeneration. We have undertaken corneal confocal microscopy (CCM) to assess for evidence of neurodegeneration in children with simple obesity and monogenic obesity (MC4R gene mutation) and further assessed the effect of glucagon-like peptide 1 agonist (GLP-1) therapy on corneal nerve regeneration.Methods:</stro...

hrp0089p2-p018 | Adrenals and HPA Axis P2 | ESPE2018

A Novel Mutation in the MC2R Gene in a Two-year-old Boy with Adrenal Insufficiency

Al-Khawaga Sara , Hussain Khalid

Background: Melanocortin-2 receptor (MC2R) is a member of the G protein-coupled receptor family. MC2R is selectively activated by adrenocorticotropic hormone (ACTH); the binding of MC2R and ACTH activates the heterotrimeric G protein complex, and in turn stimulates steroidogenesis. Pathogenic variants in the MC2R gene result in glucocorticoid deficiency-1 (GCCD1), an autosomal recessive disorder in which unresponsiveness to ACTH leads to deficient secretion of cortisol and adr...

hrp0089p3-p254 | Growth &amp; 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...

hrp0098p2-120 | Fat, Metabolism and Obesity | ESPE2024

Whole Genome Sequencing reveals a novel leptin splice region variant in two siblings with morbid childhood obesity.

Mohammed Idris , Al-Barazenji Tara , Hussain Khalid

Background: Congenital leptin deficiency (CLD) is an extremely rare condition due to homozygous pathogenic mutations in the leptin (LEP) gene. The clinical manifestation of patients with CLD is severe early-onset obesity and hyperphagia. Most patients with pathogenic homozygous leptin gene mutations have low or undetectable leptin levels, whereas few cases show high bio-inactive circulating leptin levels. To date, around 20 variants in the LEP gene have been d...

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...

hrp0082p2-d3-490 | Endocrine Oncology | ESPE2014

Genetic Susceptibility in Autoimmune Polyglandular Syndrome Type 3 Variant

Babiker Amir , Gadi Iman Al , Jurayyan Nasir Al , Mohamed Sarar , Al Otaibi Hessah , Hussain Khalid

Background: Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spectrum of autoimmune endocrine disorders other than adrenal insufficiency. It includes the association of autoimmune thyroid disease (ATD) with type 1 diabetes (T1D) which is known as APS3 variant (APSA3v). Genes linked to possible joint susceptibility for APS3v have been reported in few cases. We report a 10-year-old girl with Graves’ disease (GD) who developed T1D after 6 years of the diagnos...

hrp0082p3-d1-876 | Perinatal and Neonatal Endocrinology | ESPE2014

Biochemical Studies in Patients with Hyperinsulinaemic Hypoglycaemia

Otaibi Hessah Al , Senniappan Senthil , Alam Syeda , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) is characterized by the dysregulated secretion of insulin from the pancreatic β-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. The rapid diagnosis and avoidance of recurrent episodes of hypoglycaemia are vital in preventing brain damage.Objective and hypotheses: To assess if the serum insulin measured at the time of hypoglycaemia in neonates with HH could be co...

hrp0098p3-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Incomplete penetrance and Variable Expressivity in Monogenic Diabetes

Chirayath Shiga , Al-Maraghi Aljazi , Mohammed Idris , Mohamadsalih Ghassan , Amin Rasha , Fakhro Khalid , Hussain Khalid

Introduction: Mendelian diseases are rare individually but collectively are estimated to affect more than 5% of global population with more than 6000 different rare phenotypes including monogenic forms of diabetes. The proportion of individuals who possess a particular genotype and exhibit the expected phenotype is defined as the penetrance of that genotype. If everyone with the genotype presents with clinical symptoms by a particular age, then it is said to b...