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 patients’ 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...

hrp0097t7 | Section | ESPE2023

Variants in the Neurodevelopmental Gene Bone Morphogenic Protein/Retinoic Acid Inducible Neural-Specific 2 (BRINP2) are Associated with Severe Delayed Puberty

Al-Sayed Yasmin , Howrad Sasha , Guasti Leonardo , Oleari Roberto

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...

hrp0086p1-p915 | Thyroid P1 | ESPE2016

Macro TSH- a Rare Cause of High Levels of TSH

Elmaogullari Selin , Yilmaz Aslihan Arasli , Ucakturk Seyit Ahmet , Tayfun Meltem , Gurbuz Fatih , Ucar Fatma , Bulut Erdem , Hattori Naoki , Demirel Fatma

Background: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...

hrp0086p1-p916 | Thyroid P1 | ESPE2016

Papillary Thyroid Carcinoma in a Mother and Child Evolving after the Manifestation of Grave’s Disease

Al Badi Maryam , Lankes Erwin , Kuehnen Peter , Al Semani Aisha , Biebermann Heike , Krude Heiko , Schmid Kurt , Grueters Annette

Background: Familial PTC manifesting in childhood has been described only in single cases, mainly in the context of rare syndromes (APC-associated-syndrome, PTEN-hamartoma syndromes etc). PTC in Grave’s disease (GD) has been described in adults, but not in familial cases including young children.Objective and hypotheses: We investigated the association of large metastatic papillary carcinoma (PTC) in a 10 years old female and her mother evolving rap...

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:<...

hrp0092p1-94 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Familial Occurrence of Turner Syndrome in two Tunisian Families

Gargouri Imen , Kmiha Sana , Abdelhedi Fatma , Hadjkacem Faten , Safi Wajdi , Loukil Fatma , Mnif Mouna , Hachicha Mongia , Kamoun Thouraya , Belguith Neila , Abid Mohamed

Background: Turner syndrome (TS) is a common genetic disorder with an incidence of 1 in 2500 live births due to chromosomal errors resulting in monosomy for the X chromosome with or without mosaicism. Familial TS has been rarely reported. We report two families having TS.Methods: We report 6 patients with TS who had been referred to the Endocrinology department and Pediatric department at Hedi Chaker hospital, Sfax, Tuni...

hrp0095p1-494 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal growth pattern in (n=51) infants of non-diabetic mothers (INDM) who were born preterm or near term and had significant neonatal hypoglycemia

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

Prematurity is a risk factor for significant hypoglycemia even in infants born to non-diabetic mothers (INDM) which could lead to postnatal growth abnormalities. This study evaluated the growth pattern from birth until the age of 2 years of 51 INDM who were born preterm or near term and admitted with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4,6,12,18 and 2 years were measured in 51 INDM who admitted with neonatal hypoglycemia (Plasma value les...

hrp0095p2-127 | Fat, Metabolism and Obesity | ESPE2022

The effects of Long-term (five years) Prednisone Therapy in Frequently Relapsing Nephrotic Syndrome of Childhood: Impact on glycemia and the different components of the metabolic syndrome (MetS)

Hamed Noor , Soliman Ashraf , Alaaraj Nada , Ahmed Shayma , Alyafei Fawzia , Itani Maya , Al-Naimi Fatima , Al-Yousef Doaa , Shaat Mona , El Baba Mostafa

Although widely prescribed for their anti-inflammatory and immunosuppressive properties, glucocorticoids have various common metabolic side effects including hypertension, dysglycemia, and diabetes. Proposed risk factors for steroid-induced dysglycemia and metabolic syndrome include cumulative dose, longer duration of steroid course, and high body mass index.Aim: This study was carried out to investigate the prevalence of different metab...