hrp0092p2-193 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Linear Growth of Children with Celiac Disease (CD) after the First Two Years on a Gluten-Free Diet (GFD); A Controlled Study

TAWFIK SOLIMAN ASHRAF , Laham Muhannad , Jour Celine , Itani Maya , Shaat Mona , Souikey Fatima , Al-Naimi Noora , Al-Safi Athba , Qudaisat Anwar , Alarabi Zohair , Hassan Ayman , Quraan Eyad , Elsiddig sohair

We evaluated the effect of GFD on the growth of children with the classical form of CD on long-term GFD (> 2 years).Methods: We studied growth parameters (weight gain/day, BMI and BMISDS, HtSDS) and lab data for 30 prepubertal children aged 8.5 years +/−3 years with CD, who were on GFD since the age of 3.4 years +/−2.6 years (> 2 years on GFD) for duration of 1 year. The anthropometric data of 30 randomly sele...

hrp0095p1-92 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Reference National Standards for Placental Weight in Infants born between the 37th and 43rd weeks of Gestation in Qatar. (A Population-Based Retrospective Data Analysis (n = 80722).

Alyafei Fawzia , Al-qubasi Mai , Soliman Ashraf , Ali Hamdy , Olukade Tawa , Alturk Mohamad , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...

hrp0095p2-128 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Placental Weight and their relation to Infant Birth weight and Gender, Gestational Age, and Maternal Age: (A Population-Based Retrospective Data Analysis (n = 80722)

Alyafei Fawzia , Mai Al-qubasi , Soliman Ashraf , Ali Hamdy , Olukade Tawa , Alturk Mohamed , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Many potential factors can affect or be influenced by placental size. These include gestational age, maternal age, race, socioeconomic status, and gender of the baby.Aim: We investigated the possible association/s between placental weight on the one hand and birth weight, gestational age, maternal age, and gender of the baby in a large cohort of newborns (n = 80722)Me...

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 ...

hrp0092p1-266 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

A Nationwide Study of the Prevalence & Initial Management of Atypical Genitalia & Delayed Sex Assignment in the Newborn

Rodie Martina , Ali Salma , Jayasena Arundathi , Al-Enazi Naser , McMillan Martin , Cox Kathyrn , Cassim Sumaiya M. , Henderson Stuart , Ahmed S.Faisal

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

hrp0092p3-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Linear Growth in Children with COW Milk Allergy and their Response to Hypoallergenic Diet; Significant Catch-Up in the First 6 Months

Shaat Mona , Soliman Ashraf , Itani Maya , Jour Celine , Elsiddig Sohair , Souieky Fatima , Al-Naim Noora , Ehlayel Mohammad

Introduction: Milk allergy is an adverse immune reaction to proteins in cow's milk. Treatment consists of eliminating milk from the diet. Controversy exists about the effect of CMA and the use of hypoallergenic formula on linear growth in these children.Objectives: To evaluate the growth status of children with CMA at their first presentation and after 6 months of hypoallergenic formula.<strong...

hrp0089p1-p079 | Diabetes &amp; 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-p099 | Diabetes &amp; Insulin P2 | ESPE2018

Metabolic Improvement Offered by Medtronic Minimed 640 G Associated to Transient Insulin Perfusion Suspension before Hypoglycemia in Young Patients with Type 1 Diabetes

Al Hage Chehade Ghada , Godot Cecile , Jourdon Isabelle , Lepage Nadine , Eve Schmidt Marie , Polak Michel , Beltrand Jacques

Objective: Fear of hypoglycemia interferes frequently with metabolic control of type 1 diabetes especially in patients under 5 years of age who are at high risk of hypoglycemia and low metabolic control. Medtronic Minimed 640 G insulin pump with Smart Guard technology (suspension of insulin perfusion in predictive hypoglycemia situations) appears to be an adequate system for these patients by reducing the risk of hypoglycemia.Research design and methods:...

hrp0089p2-p281 | Growth &amp; 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 &amp; 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 ...