hrp0092p1-99 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Eating Behavior and Oxytocin in Childhood-onset Craniopharyngioma Patients: An Exploratory Study

Daubenbüchel Anna M. , Özyurt Jale , Warmuth-Metz Monika , Eveslage Maria , Müller Hermann L.

Background: Childhood-onset craniopharyngioma patients (CP) often suffer from tumor or treatment-related hypothalamic lesions (HL). These lesions may alter production of oxytocin, which plays a major role in the regulation of eating behavior and body composition.Objective: In CP with different degrees HL, we investigated associations between HL, eating behavior/eating attitudes, and oxytocin saliva concentrations (OSC).<...

hrp0092p2-169 | GH and IGFs | ESPE2019

Experience of Growth Hormone Therapy in Two Cases with Congenital Adrenal Hypoplasia

Suman Gök Ebru , Direk Gül , Uzan Tatli Zeynep , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...

hrp0092p3-67 | Diabetes and Insulin | ESPE2019

What has Changed in Type 1 Diabetes Mellitus Cases in the Last Eight Years? A Single Center Experience

Çiçek Dilek , Tatli Zeynep Uzan , Direk Gül , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Objectives: Type 1 diabetes mellitus (DM) is an autoimmune disease caused by the destruction of pancreatic beta cells. The frequency of Type 1 DM is increasing, and the highest incidence rate is in children under 5 years of age. It is estimated that children under the age of five will develop approximately 70% of the cases under the age of 15, with an increased incidence.In our study, we aimed to evaluate the demographic, clinical an...

hrp0089p3-p003 | Adrenals and HPA Axis P3 | ESPE2018

Nelson’s Syndrome after Bilateral Adrenalectomy for Cushing’s Disease in Pediatric Age – Report of a Case

Machado Catarina M , Leite Ana L , Sousa Ana , Almeida Lucia , Campos Rosa Armenia , Oliveira Maria Joao , Marques Jorge Sales

Introduction: Nelson’s syndrome is a potentially severe complication of bilateral adrenalectomy, a radical procedure performed in the treatment of hypercortisolism in Cushing’s disease (CD). We report a case of CD in pediatric age submitted to bilateral adrenalectomy with subsequent Nelson’s syndrome.Case report: Male, 5-year-old, referred to a Pediatric outpatient clinic because of growth failure, rapid weight gain and high blood pressure...

hrp0089p2-p036 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Length Estimation Based on Clinical and Anthropometric Measures in Newborns

Beauregard-Paz Martha , Miranda-Lora America L. , Cruz-Hernandez Ana M. , Rivas-Rivas Rodolfo , Klunder-Klunder Miguel

Background and Aims: The hospitalized neonates requires specialized and multidisciplinary approach and the nutritional follow-up is an essential part of the care. The anthropometry is required to evaluate the nutritional status of patients over time. The main measurements to determine the nutritional status in infants are weight and length. These measures are used to evaluate indexes as length for age, weight for length and body mass index. According to the above, the measurem...

hrp0089lb-p1 | Late Breaking P1 | ESPE2018

A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure

Cottrell Emily , Maharaj Avinaash , Chatterjee Sumana , Grandone Anna , Cirillo Grazia , del Giudice Emanuele Miraglia , Metherell Louise A , Storr Helen L

Background: Growth Hormone Insensitivity (GHI) is usually caused by mutations in the Growth Hormone receptor (GHR). Patients present with short stature associated with high GH and low IGF-I levels and often have midfacial hypoplasia (typical Laron syndrome facial features). Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c. 618+792A>G). The inclusion of this 108bp pseudoexon is predicted to lead to in-frame insertion of...

hrp0082fc1.1 | Adrenal | ESPE2014

Molecular mechanisms of nongenomic glucocorticoid actions: the role of human glucocorticoid receptor S-palmitoylation

Nicolaides Nicolas C , Roberts Michael L , Kino Tomoshige , Katsantoni Eleni , Sertedaki Amalia , Chrousos George P , Charmandari Evangelia

Background: In humans, glucocorticoids (GCs) regulate a broad spectrum of physiologic functions, exerting both genomic and nongenomic actions through their ubiquitously expressed glucocorticoid receptor (hGR). The rapid nongenomic actions of GCs are likely to be mediated by membrane hGRs that transduce the glucocorticoid signal via activation of kinases. S-palmitoylation plays an important role in plasma membrane localization and occurs through a highly conserved nine amino ac...

hrp0082p1-d1-147 | Growth | ESPE2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Minari R , Vottero A , Azzolini S , Barbaro D , Bindi G , Bozzola M , Burrai C , Cardinale G M , Cioffi D , Cisternino M , Coccioli M S , Delvecchio M , Fabbrizi E , Ferrari M , Gallarotti F , Gallo F , Ghizzoni L , Maggio M C , Mainetti B , Montinaro R , Municchi G , Panariello A , Parpagnoli M , Perrone L , Petraroli M , Radetti G , Radicioni A F , Rossodivita A , Salerno MC , Savasta S , Seminara S , Tafi L , Tomat M , Tummolo A , Wasniewska M , Iughetti L , Bernasconi S

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

hrp0082p1-d3-195 | Pituitary | ESPE2014

Childhood Craniopharyngioma: Changes of Treatment Strategies in Multinational Trials During the Last 12 Years

Hoffmann Anika , Warmuth-Metz Monika , Gebhardt Ursel , Pietsch Torsten , Pohl Fabian , Kortmann Rolf-Dieter , Calaminus Gabriele , Muller Hermann L

Background: Despite high survival rates in childhood craniopharyngioma, prognosis is frequently impaired due to sequelae. Radical surgery was the treatment of choice for several decades. However, even at experienced surgical facilities radical surgery can result in hypothalamic disorders such as severe obesity.Objective and hypotheses: We analyzed, whether treatment strategies for childhood craniopharyngioma patients recruited in German studies (KRANIOPH...

hrp0084p2-509 | Pituitary | ESPE2015

Survival, Hypothalamic Obesity, and Neuropsychological/Psychosocial Status after Childhood-Onset Craniopharyngioma: Newly Reported Long-Term Outcomes

Sterkenburg Anthe S , Hoffmann Anika , Gebhardt Ursel , Warmuth-Metz Monika , Daubenbuchel Anna M M , Muller Hermann L

Background: Quality of life and long-term prognosis are frequently, often severely impaired in craniopharyngioma (CP) patients.Objective and hypotheses: Knowledge of risk factors for long-term outcome is important for optimisation of treatment.Method: Overall survival (OS) and progression-free survival (PFS), BMI, neuropsychological status (EORTCQLQ-C30, MFI-20), and psychosocial status were analysed in 261 patients with childhood-...