hrp0084p3-751 | Diabetes | ESPE2015

Fasting the Holy Month of Ramadan in Older Children and Adolescence with Type 1 Diabetes in Kuwait

Mohamed Kholoud , Al-Abdulrazzaq Dalia , Busairi Eman El , Shawaf Faisal Al , Abdul-Rasoul Majedah

Background: Ramadan is the holy month of fasting for Muslims. New evolving technology in the treatment of type 1 diabetes (T1DM) had encouraged Muslim diabetics to pursuit the practice of fasting. There are limited data on fasting of children and adolescence with T1DM during the holy month.Objective and hypotheses: Our aim is to investigate the ability, effect and safety of children and adolescence with T1DM to fast the Holy Month of Ramadan 2014.<p ...

hrp0097p1-106 | GH and IGFs | ESPE2023

Growth Hormone (GH) Therapy in Children with short stature: A cross-sectional study of indication and treatment outcomes- 12-year single center experience

Al Jneibi Sara , Hammouri Marwa , Taha Fatima , Allami Zahraa , Weber Stefan , AlJubeh Jamal , Al Remeithi Sareea

Background: GH deficiency remains the main indication for GH therapy in children. GH therapy has subsequently been approved in the USA and Europe for other conditions resulting in short stature, including Turner Syndrome, being born small for gestational age with failure to attain normal growth, Prader-Willi Syndrome, chronic renal insufficiency, short stature homeobox-containing gene deficiency, and in the USA exclusively Noonan Syndrome and idiopathic short ...

hrp0098fc10.6 | Multisystem Endocrine Disorders | ESPE2024

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective

Almutair Angham , Tischlinger Katharina , Al Subaihin Abdlmajeed , Al Dibasi Omar , Al Ghanam Suliman , Ghamdi Hadeel , Melha Maali , Alanazi Aisha , AlSaedi Abdulaziz , Althobaiti Enad , Al Senani Aisha , Al Azkawi Hanan , Al Enezi Ayed , Bakkar Ayman , Ali Ahmed , Al Juraibah Fahad , Alyaarubi Saif , Al Sagheir Afaf , Hogler Wolfgang

Introduction: Sanjad-Sakati-Syndrome (SSS), or hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), is primarily observed in individuals of Middle Eastern descent due to a recessive founder mutation in exon 3 of the TBCE gene. Little is known about disease evolution, endocrine features, management and cause of early death.Aim: To gain better understanding of growth, full phenotypic spectrum, endocrine fea...

hrp0098p2-128 | Fat, Metabolism and Obesity | ESPE2024

Identification and Functional Validation of Rare Missense Variants in PLXNA1 as a Candidate Gene for Severe Early-onset Obesity

Al-Barazenji Tara , Hammad Ayat , Mohammed Idris , Hussain Khalid , Al-Shafai Mashael

Background: Monogenic obesity (MO) is a rare form of obesity caused by mutations in a single gene, and characterized by being severe and with early onset. The leptin-melanocortin pathway is the main pathway controlling satiety and food intake. Genetic variants in this pathway have been implicated in MO with many being identified in consanguineous populations. Another group of neuronal proteins important in the development of neuronal circuits linked to energy ...

hrp0092p2-67 | Diabetes and Insulin | ESPE2019

Periodontal Disease Among Children and Adolescents with Type 1 Diabetes Mellitus

Babiker Omer , Osuji Oliver , Qudah Mansour , Al Brahim Nahla

Periodontal disease is defined as inflammation within the supporting tissues of the teeth, progressive attachment loss, and bone loss. It results from an extension of inflammation from the gingiva into deeper periodontal tissue. Periodontal disease is well studied among the adult population. Diabetes mellitus is considered as one of its risk factors among adults. We conducted this cross-sectional pilot study to investigate the association of periodontal disease and metabolic c...

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...

hrp0094p2-91 | Bone, growth plate and mineral metabolism | ESPE2021

Two-year experience of burosumab therapy in pediatric XLH patients in Saudi Arabia

AlJuraibah Fahad , Aldubayee Mohamed , Alsagheer Afaf , Shaikh Adnan Al ,

Background: X-linked hypophosphatemia (XLH) is a rare, often debilitating genetic disorder caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) that is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal deformities, and growth impairment.1,2 Conventional therapy with the combination of phosphate and active vitamin D is associated with poor treatment adh...

hrp0094p2-100 | Diabetes and insulin | ESPE2021

The knowledge and Confidence in Management of Diabetic Ketoacidosis (DKA) among Iraqi Paediatric Residents: a Cross Sectional Study

Alsaffar Hussain , Al-Jumaili Ali Hasan , Hadi Wasnaa ,

Introduction: Diabetic ketoacidosis (DKA) is a common medical emergency and is the most common cause of death in children with type 1 diabetes mellitus due its complications. Paediatric residents are usually the first line whom managing paediatric emergencies in Iraqi hospitals. They form the backbone of the provided service. It is important to make sure they are practicing at the highest possible standard to ensure patientsÂ’ safety. Therefore, it is cruc...

hrp0094p2-279 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The Effect of Hospital Admission and Nutritional Rehabilitation (NR) on Growth and Metabolic abnormalities in adolescent females with severe Anorexia Nervosa (AN)

Al-Ansari Alanoud , Alsafi Athba , Alaaraj Nada , Soliman Ashraf ,

There is a lack of clear evidence-based guidelines for hospital admission of adolescents with anorexia nervosa (AN), resulting in a high degree of variation in practices. Acceptable indications for admission include the following: weight is less than 75% of ideal body weight, temperature < 35.5°C, heart rate < 50 beats/min, systolic BP <80 mm Hg, and orthostatic change in pulse or in BP.The aim of this study: To evaluate the ant...

hrp0094p2-280 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

AL Jorge Alexander , Pietropoli Alberto , Kelepouris Nicky , Horikawa Reiko ,

Objectives: Mutations in PTPN11 are known to be associated with Noonan syndrome (NS), accounting for approximately 50% of cases. Data from a non-interventional and phase 3 study of Norditropin (somatropin; Novo Nordisk A/S, Denmark) were used to assess the impact of PTPN11 mutation status on growth outcomes in children with NS receiving growth hormone therapy (GHT).Methods: The ANSWER (NCT01009905) prog...