hrp0089fc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Molecular Screening of Genes Associated with Central Precocious Puberty

Fanis Pavlos , Neocleous Vassos , Toumba Meropi , Gorka Barbara , Stylianou Charilaos , Galli-Tsinopoulou Assimina , Nicolaou Stella , Kyriakou Andreas , Dimitriadou Meropi , Christoforidis Athanasios , Skordis Nicos , Phylactou Leonidas A

Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis through the activation of the gonadotropin releasing hormone (GnRH). Gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function mutations of the makorin RING-finger protein 3 (MKRN3) have been linked with CPP. Moreover intronic and intragenic variants harbouring the imprinted loci of MKRN3-MAGEL2 and DLK1 g...

hrp0089rfc6.4 | Fat, Metabolism and Obesity | ESPE2018

Functionality and Phenotypic Characteristics of Mutations in the Human Leptin Receptor

Nunziata Adriana , Funcke Jan-Bernd , Borck Guntram , von Schnurbein Julia , Lennerz Belinda , Moepps Barbara , Gierschik Peter , Fischer-Posovszky Pamela , Wabitsch Martin

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...

hrp0089p2-p307 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

The Effect of GnRH-Analogue Therapy on the Quality of Life of Patients with Central Precocious Puberty and Their Families

Lucaccioni Laura , Pugliese Marisa , Manzotti Elena , Bruzzi Patrizia , Righi Beatrice , Poluzzi Silvia , Madeo Simona F , Bigi Elena , Predieri Barbara , Iughetti Lorenzo

Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patient’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.Material and me...

hrp0089p1-p264 | Thyroid P1 | ESPE2018

Thyroid Nodules in a Childhood Cancers Survivors Population: A Monocentric Experience

Peschiaroli Emanuela , Ubertini Graziamaria , Grossi Armando , Ferro Giusy , Martini Ludovica , Paone Laura , De Pasquale Maria Debora , Ferroli Barbara Baldini , Cappa Marco

Thyroid nodules are rare in pediatric age with an incidence of 1.8–3%. However, the risk of thyroid cancer is much higher in the pediatric population compared with adults. Among the pediatric cancer survivors there is an increased risk of developing a secondary malignancy and the thyroid cancers account for about 10% of these secondary tumors. From 2004 to 2017, we have recruited 43 patients (22 females; 21 males) with thyroid nodules among a population who had presented ...

hrp0086rfc3.6 | Pituitary | ESPE2016

Priority Target Conditions of Growth-Monitoring in Children: Toward Consensus

Scherdel Pauline , Reynaud Rachel , Pietrement Christine , Salaun Jean-Francois , Bellaiche Marc , Arnould Michel , Chevallier Bertrant , Carel Jean-Claude , Piloquet Hugues , Jobez Emmanuel , Cheymol Jacques , Heude Barbara , Chalumeau Martin

Background: Growth monitoring of apparently healthy children aims at early detection of severe underlying conditions. Strong empirical evidence shows that current practices of growth monitoring are suboptimal. Practice standardisation with validated tools requires answering two questions: Which conditions should be targeted? How should abnormal growth be defined?Objective and hypotheses: To obtain consensus on a short list of priority target conditions o...

hrp0086p1-p194 | Diabetes P1 | ESPE2016

Longitudinal Monitoring of Pediatric Insulin Treatment in Germany and Austria: Age-Dependent Analysis of 63 967 Children and Adolescents with Type 1 Diabetes from the DPV Registry

Bohn Barbara , Karges Beate , Vogel Christian , Otto Klaus-Peter , Marg Wolfgang , Hofer Sabine E , Frohlich-Reiterer Elke , Holder Martin , Plamper Michaela , Wabitsch Martin , Kerner Wolfgang , Holl Reinhard W

Background: Depending on age, needs and preferences in insulin therapy strongly differ between children and adolescents with type 1 diabetes (T1D).Objective and hypotheses: To analyse trends in insulin regimen and type of insulin used over the last two decades in three age-groups of pediatric patients with T1D from Germany/Austria.Method: 63 967 subjects (<18 year of age) with T1D documented between 1995 and 2014 from the &#145...

hrp0086p2-p513 | Fat Metabolism and Obesity P2 | ESPE2016

Low Birth Weight is not Associated with Increased Risk of Metabolic Syndrome in Obese Children and Adolescents

Inzaghi Elena , Fintini Danilo , Baldini Ferroli Barbara , Grossi Armando , Pedicelli Stefania , Bizzarri Carla , Fiori Rossana , Spadoni Gianluigi , Scire Giuseppe , Cappa Marco , Cianfarani Stefano

Background: Children born small for gestational age (SGA) are at risk for metabolic syndrome (MetS) as adults and show a higher prevalence of MetS components.Objective and hypotheses: To define the association between low birth weight and the presence of MetS in a cohort of obese Italian children and adolescents.Method: The presence of MetS was studied in a cohort of obese (BMI >90th centile) children and adolescents consisting...

hrp0086p1-p744 | Pituitary and Neuroendocrinology P1 | ESPE2016

A Prospective Evaluation of Urinary Gonadotrophins for Assessment and Management of Pubertal Disorders

Lucaccioni Laura , McNeilly Jane , McMillan Martin , Kyriakou Andreas , Shaikh M. Guftar , Wong Sze Choong , Predieri Barbara , Iughetti Lorenzo , Mason Avril , Ahmed S. Faisal

Background: An increasing need for non-invasive, out-patient based investigations has necessitated a re-evaluation of urinary gonadotrophins (uGn) for assessing puberty.Objective: Prospective evaluation of the relationship between first morning uGn measured by immunoassay and corrected for creatinine (uLH:uCr; uFSH:uCr), and basal serum gonadotropins (sLH, sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients rec...

hrp0086p2-p855 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Usefulness of Magnetic Resonance Imaging of the Heart and Aorta in the Diagnostic Work-up in Girls with Turner Syndrome

Obara-Moszynska Monika , Rozmiarek Szymon , Lanocha Magdalena , Kociemba Anna , Rabska-Pietrzak Barbara , Janus Magdalena , Siniawski Andrzej , Mrozinski Bartlomiej , Niedziela Marek , Pyda Malgorzata

Background: Congenital heart defects are found in 50% of girls with Turner syndrome (TS). The evaluation of cardiovascular system is an important element in the diagnostic work-up of TS and is of particular significance of cardiologic monitoring, safety aspects of rGH treatment and any pregnancy planning.Objective and hypotheses: Assess the cardiovascular system in TS girls with magnetic resonance imaging of the heart and aorta (CMR and angioMR).<p c...

hrp0086p1-p924 | Thyroid P1 | ESPE2016

In Children with Autoimmune Thyroid Diseases the Association with Down syndrome can Modify the Clustering of Extra-Thyroidal Autoimmune Disorders

Aversa Tommaso , Valenzise Mariella , Corrias Andrea , Salerno Mariacarolina , Iughetti Lorenzo , Tessaris Daniele , Capalbo Donatella , Predieri Barbara , De Luca Filippo , Wasniewska Malgorzata

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...