hrp0095p1-317 | Growth and Syndromes | ESPE2022

Effects of combined treatment with rhIGF-I and metreleptin in a girl with the severe insulin resistance Rabson-Mendenhall syndrom

Genthner N. , Rakicioglu H. , Karatsiolis P. , Wudy SA , Kamrath C.

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...

hrp0095p1-162 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Complications of non-endocrine pituitary tumors in children, in the city of Oran

Faraoun Khadra , Chentli Farida , Zoubir Safia , Midoun Nori

Background: Non-endocrine pituitary tumors (NEPT) correspond to expansive processes, developing at the expense of non-endocrine pituitary lodge structures. Our objective is to evaluate their prevalence and their incidence rates in Oran, Algeria.Patients and Methods: This is a cross-sectional descriptive multicenter study in the town of Oran study. Data were collected prospectively from Avril 2014 to Mars 2015 and retrosp...

hrp0095p1-548 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Legal degree of disability in childhood-craniopharyngioma survivors during long-term follow-up: Results of the HIT-ENDO study

Boekhoff Svenja , Eveslage Maria , Beckhaus Julia , Friedrich Carsten , L. Müller Hermann

Background: Cranioparyngiomas are rare low-grade embryonic malformational tumors of the sellar/parasellar region. The prognosis after diagnosis during childood and adolescence is influenced by endocrine and hypothalamic long-term sequelae. A legal status of the degree of disability (GdB), according to the German Social Code Book V that is worthy of support provides financial means for psychosocial rehabilitation and participation of craniopharyngioma survivors...

hrp0095p1-560 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Craniopharyngiomas in children: Hormonal profile and regional complications

Faraoun Khadra , Chentli Farida , Zoubir Safia , Midoun Nori

Background: The craniopharyngioma is a non-endocrine tumor, developed along the infundibulo-pituitary axis, from the third ventricle to sphenoid, histologically benign but locally invasive. It is a tumor with serious complications because of its location, its considerable potential for extension, its tendency to recur, and its adhesions to neighbouring structures. Our aim is to assess hormonal profile, neuro-ophthalmological and metabolic complications at the ...

hrp0097fc5.5 | Diabetes and insulin 1 | ESPE2023

Sleep Characteristics, Glycemic Control, and Endothelial Function in Adolescents and Young Adults with Type 1 Diabetes

Promsod Ornpisa , Kositanurit Weerapat , Tabtieang Tanat , Kulaputana Onanong , Reutrakul Sirimon , Sahakitrungruang Taninee

Background: Poor glycemic control in type 1 diabetes (T1D) is linked to cardiovascular complications. Sleep duration and quality have been shown to be related to glycemic control, glucose variability, and endothelial dysfunction in adults with T1D. This study aimed to evaluate the relationship between sleep characteristics, glycemic control, glucose patterns, and endothelial function in adolescents and young adults with T1D.Metho...

hrp0097p1-432 | Diabetes and Insulin | ESPE2023

Prevalence of sleep disorders in children and adolescents with type 1 diabetes and its relation to glycemic control: A single center study

Fawzy Hesham , Elziny Magdy , Aboelenin Hadil , Laymoun Wafaa

Background: Poor sleep quality has been linked to insulin resistance and impaired glucose metabolism, but little is known about sleep and type 1 diabetes (T1D). People with T1D experience higher rates of sleep disturbances than people without diabetes, and these disturbances have negative implications on glycemic control, as well as psychosocial and cognitive outcomes.Objective: To study the prevalence of sleep disorders...

hrp0097p1-528 | Growth and Syndromes | ESPE2023

Seasonality in growth of preschool children in Palestine, a pilot study

Eida Hasan , Mansour Ahmad , Abdelhafez Mohammad , Elayan Tamara , Mansour Maryam , Abu Rob Alaa , Alghneimat Bilal , Rfidi Iyad

Introduction: Genetics, diet, and physical activity are just a few of the variables that determine child growth rates, but seasonal variations in these variables can also have an impact on growth patterns. Among kids aged four and five, we looked at the seasonality of changes in height, body weight, and BMI.Methods: This was a pilot study carried out in Palestine at a private school where psychological factors could be r...

hrp0097lb14 | Late Breaking | ESPE2023

Prevalence and risk factors of bone problems in children with supratentorial midline Low Grade Glioma.

van Roessel IMAA , Gorter JE , Bakker B , van den Heuvel - Eibrink MM , Lequin MH , van der Lugt J , Meijer L , Schouten - van Meeteren AYN , van Santen

HM

Introduction: Children with cancer are at increased risk of endocrine complications, especially children with a brain tumor. One of these late effects includes bone disorders (ranging from low bone mineral density (BMD) to osteoporosis). Children with a suprasellar Low Grade Glioma (LGG) may be especially at risk for bone problems due to exposure to multiple treatment modalities, hypothalamic dysfunction and/or decreased mobility in combination with vision los...

hrp0086p1-p232 | Diabetes P1 | ESPE2016

Extrahepatic Biliary Atresia in Combination with Toxic Cholestasis Due to Glibenclamide in a Case of Neonatal Diabetes

Kapellen Thomas , Flemming Gunter , Bartelt Heike , Wachowiak Robin , Kiess Wieland

Background: More than 20 gene loci are known to cause monogenic neonatal diabetes today. A definite mutation can be found in 65–70% of all cases. Mutations in the ATP sensitive potassium channel can frequently be treated by sulfonylurea. Glibenclamide is on of the drugs known to inhibit the bile salt export pump (BSEP). However most drug induced cholestasis cases are reported in adults.Objective and hypotheses: Glibenclamide is used frequently to tr...

hrp0095p1-591 | Thyroid | ESPE2022

Evaluation of Permanent and Transient Congenital Hypothyroidism in Cases Referred from National Neonatal Screening Program

Donbaloğlu Zeynep , Çetinkaya Semra , Aycan Zehra , Karacan Küçükali Gülin , Şakar Merve , Savaş Erdeve Şenay

Objective: The incidence of congenital hypothyroidism (CH) has increased worldwide. Lowering cut-off in screening programs has led to an increase in the rate of transient CH. We aimed to evaluate the rates of permanent and transient CH in cases referred from the screening program and to investigate the clinical and laboratory factors to predict the transient CH.Methods: 109 cases referred from the screening program to ou...