hrp0082fc5.2 | Neuroendocrinology | ESPE2014

Mutations in the Maternally Imprinted Gene MKRN3 are a Frequent Cause of Familial Central Precocious Puberty

Mekhail Nancy , Ba Ibrahima , Simon Dominique , Paulsen Anne , Zenaty Delphine , Houang Muriel , Jesuran-Perelroizan Monique , de Filippo Gianpaolo , Salerno Maria Carolina , Carel Jean-Claude , Leger Juliane , de Roux Nicolas

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...

hrp0082p1-d1-145 | Growth | ESPE2014

Genotype–Phenotype Relationship in Patients with SHOX Region Rearrangements Detected by MLPA in the French Population

Auger Julie , Baptiste Amandine , Thierry Gaelle , Costa Jean-Marc , Amouyal Melanie , Kottler Marie-Laure , Touraine Renaud , Lebrun Marine , Leheup Bruno , Schmitt Sebastien , Cormier-Daire Valerie , De Roux Nicolas , Elie Caroline , Bonnefont Jean-Paul

Background: SHOX and enhancer regions on PAR1 disorders have variable phenotypic consequences such as idiopathic short stature (ISS) and Leri-Weill Dyschondrosteosis (LWD).Objective and hypotheses: The aim of this observational multicentric study was to describe phenotypes and genotypes of a large population with mutation on SHOX and adjacent regions and to identify a possible phenotype–genotype correlation.M...

hrp0084p3-866 | Fat | ESPE2015

The Effectiveness of a Comprehensive and Personalized Plan of Action in the Prevention and Management of Overweight and Obesity in Childhood and Adolescence

Papadopoulos George , Farakla Ioanna , Bakopoulou Sophia , Giannios Christos , Koui Eleni , Georgiou Alexandra , Romas Stamatis , Terzioglou Eleni , Koniari Eleni , Papathanasiou Chryssanthi , Kassari Penio , Nicolaides Nicolas , Critselis Elena , Manios Yannis , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood.Objective and hypotheses: To investigate the effectiveness of a comprehensive and personalized plan of action in the prevention and management of overweight and obesity in childhood and adolescence.Method: 470 children and adolescents (mean age±SEM: 9...

hrp0084lbp-1263 | Late Breaking Posters | ESPE2015

Late Surgical Correction of Hypospadias Increases the Risk of Complication: a 501 Consecutive Patients Series

Garnier Sarah , Jeandel Clement , Cereda Barbara , Broussous Sylvie , Maillet Olivier , Lopez Christophe , Paris Francoise , Gaspari Laura , Philibert Pascal , Jeandel Claire , Coffy Amandine , Daures Jean Pierre , Sultan Charles , Kalfa Nicolas

Background: The surgical reconstruction of hypospadias is usually performed during the first 2 years of life but little objective data is available to determine its optimal timing. Whereas the no-early surgery option in DSD management is rising, the results of late genital surgery should be evaluated before advocating this attitude.Objective and hypotheses: To evaluate the outcome of hypospadias surgery according to age and to determine if some complicat...

hrp0094fc8.3 | Neuroendocrinology | ESPE2021

A novel clinical risk score that can accurately predict recurrence of craniopharyngioma - a multicentre cohort study

Kyprianou Nikolina , Blackburn James , Tan Rachael , Bulfamante Gaetano , Massa Valentina , Roncaroli Federico , Ribalta Teresa , Evanson Jane , Korbonits Marta , Dattani Mehul , Rai Ashutosh , Gupta Prakamya , Dutta Pinaki , Bhansali Anil , Salunke Pravin , Pani Danda , Skoric Tanja , Kastelan Darko , Gnanalingham Kanna , Mitchell Rod , Bulfamante Antonio , Argente Jesus , Goycoolea Nicolas , Torales Jorge , Biagetti Betina , Audi Laura , Resmini Eugenia , Webb Susan , Kapoor Ritika , Chandler Christopher , Zebian Bassel , Thomas Nick , Sampron Nicolas , Paraskevopoulos Dimitrios , Preda Cristina , Ahmad Amar , Pease Gevers Evelien F , Gaston-Massuet Carles ,

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

hrp0094p1-143 | Sex Endocrinology and Gonads B | ESPE2021

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21 hydroxylase deficiency in Europe

Nowotny Hanna F. , Neumann Uta , Tardy-Guidollet Veronique , Ahmed S. Faisal , Baronio Federico , Battelino Tadej , Bertherat Jerome , Blankenstein Oliver , Bonomi Marco , Bouvattier Claire , de la Perriere Aude Brac , Brucker Sara , Cappa Marco , Chanson Philippe , Grinten Hedi L. Claahsen van der , Colao Annamaria , Cools Martine , Davies Justin H. , Gunther Dorr Helmut , Fenske Wiebke K. , Ghigo Ezio , Gravholt Claus H. , Huebner Angela , Husebye Eystein Sverre , Igbokwe Rebecca , Juul Anders , Kiefer Florian W. , Leger Juliane , Menassa Rita , Meyer Gesine , Neocleous Vassos , Phylactou Leonidas A , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Vojtkova Jarmila , Yeste Diego , Lajic Svetlana , Reisch Nicole ,

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

hrp0095fc3.6 | Early Life and Multisystem Endocrinology | ESPE2022

The European Registries for Rare Endocrine Conditions (EuRRECa): the Use of a Core Registry for Collecting Common Data Elements and Clinician and Patient Reported Outcomes

Luisa Priego Zurita Ana , Ali Salma R , Bryce Jillian , Cools Martine , Danne Thomas , Dekkers Olaf M. , Hiort Olaf , Katugampola Harshini , Linglart Agnes , Netchine Irene , Nordenström Anna , Patócs Attila , Pereira Alberto M , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdenek , Taruscio Domenica , Edward Visser W , M Appelman-Dijkstra Natasha , Faisal Ahmed S

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

hrp0095p1-223 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Real-world data in children with achondroplasia after licensing of Vosoritide

Palm Katja , Bechthold-Dalla Pozza Susanne , Gausche Ruth , Högler Wolfgang , Hoyer- Kuhn Heike , Hübner Angela , Keller Alexandra , Mirante Alice , Mohnike Klaus , Muschol Nicole , Nader Sean , Pfäffle Roland , Quitter Friederike , Rohrer Tilmann , Rutsch Frank , Schnabel Dirk , Semler Oliver , Silva Isabel , B. Sousa Sérgio , M.K. Voelkl Thomas , Wechsung Katja , Weigel Johannes , Woelffle Joachim , Lausch Ekkehart

Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngol...

hrp0092rfc3.1 | Multi-system Endocrine Disorders | ESPE2019

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Ali Salma , Bryce Jillian , Muir Tom , Okure Akanimo , Cools Martine , Danne Thomas , Dattani Mehul , Dekkers Olaf , Hiort Olaf , Linglart Agnès , Netchine Irène , Nordenström Anna , Patócs Attila , Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdeněk , Taruscio Domenica , Visser W. Edward , Ahmed S.Faisal

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

hrp0092p1-269 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

The Impact of Klinefelter Syndrome on Quality of Life – a Multicentre Study

Franik Sebastian , Fleischer Kathrin , Kortmann Barbara , Stikkelbroek Nike , D'Hauwers Kathleen , In't Hout Joanna , Bouvattier Claire , Slowikowska-Hilczer Jolanta , Grunenwald Solange , van de Grift Tim , Cartault Audrey , Richter-Unruh Annette , Reisch Nicole , Thyen Ute , Claahsen - van der Grinten Hedi

Background: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS and associate QOL with socioeconomic status, prevalence of somatic disease and mental illness, testosterone supplementation and age of diagnosis.<p class=...