hrp0089p2-p210 | GH & IGFs P2 | ESPE2018

Severe Short Stature, Growth Hormone (GH) Deficiency, Hypospadias, and Microcephaly: New Insights into the Role of Chromosome 4 Long Arm Duplication

Haris Basma , Hasnah Reem , Saraswathi Saras , Saeed Amira , Sharari Sanaa , Mohammed Idris , Hussain Khalid

Background: Duplication of the long arm of chromosome 4 has been described in more than 60 patients. The severity and specificity of associated symptoms depend on the size and location of the duplication, and which genes are involved.Reported features include developmental delay, intellectual disability, birth defects, hypotelorism, growth retardation, short neck, dysmorphism, and abnormalities to the extremities.Objective: To report a two-year old child...

hrp0092p1-189 | Diabetes and Insulin (1) | ESPE2019

A Novel SLC2A2 Mutation Implicated in Fanconi Bickel Syndrome and Dysglycemia

Sharari Sanaa , Aouida Mustapha , Khan Faiyaz , Al-Khawaga Sara , Mohammed Idris , Haris Basma , Saraswathi Saras , Mundekkadan Shihab , Hussain1 Khalid

Background: Fanconi Bickel syndrome (FBS) is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner and caused by mutations in the SLC2A2 gene leading to the loss of GLUT2 glucose transporter expression. The disease is considered to be rare in which a little more than 100 cases have been reported in the literature. The SLC2A2 gene encodes for GLUT2, a low affinity facilitative glucose transporter expressed in critical tissues ...

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 ...

hrp0097rfc8.4 | Fat, metabolism and obesity 2 | ESPE2023

Understanding the genetics of early onset obesity in a cohort of children from Qatar

Mohammed Idris , Haris Basma , Al-Barazenji Tara , Vasudeva Dhanya , Tomei Sara , Al Azwani Iman , Dauleh Hajar , Shehzad Saira , Chirayath Shiga , Mohamadsalih Ghassan , Petrovski Goran , Khalifa Amel , love Donald , Al-Shafai Mashael , Hussain Khalid

Context: Monogenic obesity (MO) is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early-onset obesity. Mutations in the MC4R and Leptin genes are the commonest causes of MO. Determining the genetic causes has important clinical benefits as novel therapeutic interventions were developed for some forms of MO.Objective:<...

hrp0097fc3.5 | Fat, metabolism and obesity 1 | ESPE2023

Early corneal nerve loss in children with obesity and type 2 diabetes

Gad Hoda , Dauleh Hajar , Chirayath Shiga , Pasha Maheen , Haris Basma , Amin Rasha , Afyouni Houda , Petrovski Goran , Shehzad Saira , Khalifa Amel , Mohammed Ahmed Elwaseila , Mohamadsalih Ghassan , Campbell Judith , Jolkka Sari , Biglang-awa Roshirl , Cuatrona Erlinda , Inso Gina , Razon Gerald , A. Hendaus Mohamed , Elgassim Einas , N. Petropoulos Ioannis , Ponirakis Georgios , A. Malik Rayaz , Hussain Khalid

Background: Childhood obesity is highly prevalent in the MENA region and may be associated with sub-clinical neuropathy.Methods: Children with obesity with normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and Type 2 diabetes Mellitus (T2DM) and healthy controls (HC) underwent body composition analysis, assessment of vibration perception threshold (VPT), monofilament sensitivity and corneal confocal micros...