hrp0094p2-183 | Fat, metabolism and obesity | ESPE2021

Evaluation of the BigO system in a clinical setting in Greece

Kassari Penio , Tragomalou Athanasia , Vourdoumpa Aikaterini , Koutaki Diamanto , Papadopoulou Marina , Manou Maria , Ioakeimidis Ioannis , Filis Konstantinos , Theodoropoulou Eleni , Lymperopoulos Giorgos , Ferri Daniel , Karavidopoulou Youla , Stefanopoulos Leandros , Diou Christos , Lekka Eirini , Maglaveras Nicos , Delopoulos Anastasios , Charmandari Evangelia ,

Background: Obesity in childhood and adolescence represents one of the most important public health problems. Over the last decade, the widespread use of personal digital technologies, such as smart mobiles and accelerometers, create new possibilities for collecting bevavioral data objectively.Objective: To evaluate the body mass index (BMI) trajectory after at least one month’s use of the BigO system.<p class="...

hrp0092p1-332 | Diabetes and Insulin (2) | ESPE2019

Targeted Next-Generation Sequencing Demonstrates High Frequency of MODY in Russian Children.

Zubkova Natalia , Laptev Dmitry , Sorokin Daniil , Makretskaya Nina , Petrov Vasily , Vasilyev Evgeny , Tiulpakov Anatoly

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. At least 13 types of MODY have been described in the literature, the most frequent of which are MODY types 1–3. The frequency of different MODY types in children in Russia has not been studied before.<strong...

hrp0082wg5.2 | Paediatric and adolescent gynaecology | ESPE2014

Amenorrhea and Hypothalamic–Pituitary Dysfunction

Pitteloud N

Female reproductive disorders due to a hypothalamic–pituitary defect include hypothalamic amenorrhea (HA), polycystic ovarian syndrome (PCOS) and hyperprolactinemia. This talk will review the clinical presentation of HA, PCOS and hyperprolactinemia in adolescents and young adults and will provide an overview of recent clinical advances in the field....

hrp0095rfc10.2 | GH and IGFs | ESPE2022

Severe primary IGF1 deficiency diagnosed by a standardized IGF1/ IGFBP3 generation test : the Belgian experience

Ryckx Sofie , Derycke Christine , Anckaert Ellen , Beauloye Véronique , Beckers Dominique , Brachet Cécile , Den Brinker Marieke , De Waele Kathleen , Dotremont Hilde , Boros Emese , Klink Daniel , Lebrethon Marie-Christine , Lysy Philippe , Mouraux Thierry , Parent Anne-Simone , Rochtus Ann , van der Straaten Saskia , De Schepper Jean

Background/ Aim: Over the past 6 years, the IGF1/ IGFBP3 generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency (SPIGFD). In this study, the discordance of the IGF1 and IGFBP3 responses during an IGFGT and the prevalence of SPIGFD were analyzed in a cohort of children with short stature (height SDS < - 2) and presenting with low (below lower reference limit) serum IGF1 level and norma...

hrp0092rfc11.1 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

National United Kingdom Evidence- and Consensus-Based Guidelines for the Investigation, Treatment and Long-Term Follow-Up of Paediatric Craniopharyngioma

Gan Hoong-Wei , Morillon Paul , Albanese Assunta , Aquilina Kristian , Barkas Konstantinos , Chandler Chris , Chang Yen-Ch'ng , Daousi Christina , Drimtzias Evangelos , Farndon Sarah , Jacques Tom , Korbonits Marta , Kuczynski Adam , Limond Jennifer , Robinson Louise , Simmons Ian , Thomas Nick , Thomas Sophie , Thorpe Nicola , Vargha-Khadem Faraneh , Warren Daniel , Zebian Bassel , Gamble Ashley , Wilne Sophie , Harrison Barney , Spoudeas Helen , Mallucci Conor

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related neuroendocrine, cognitive and visual morbidity. A recent international survey highlighted the considerable variation in management strategies employed for these tumours, and the lack of any evidence- a...

hrp0082fc3.5 | Diabetes | ESPE2014

Pancreatic N-Methyl-D-Aspartate Receptors as Novel Drug Targets for The Treatment of Diabetes Mellitus

Welters Alena , Marquard Jan , Otter Silke , Stirban Alin , Eglinger Jan , Herebian Diran , Stozer Andraz , Wnendt Stephan , Piemonti Lorenzo , Kohler Martin , Schliess Freimut , Rupnik Marjan Slak , Heise Tim , Berggren Per-Olof , Klocker Nikolaj , Mayatepek Ertan , Eberhard Daniel , Kragl Martin , Lammert Eckhard , Meissner Thomas

Background: N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors that are widely expressed in the CNS where they play an important role in neurotransmission and cell viability and serve as drug targets for the treatment of neurodegenerative disorders.Objective and hypotheses: Much less is known about the role of pancreatic NMDARs. Since neurons and pancreatic islets have many features in common, we hypothesiz...

hrp0094p2-260 | Growth hormone and IGFs | ESPE2021

Current growth hormone therapy practices in Belgium for the treatment of short children born small for gestational age

Thomas Muriel , Casteels Kristina , Rochtus Anne , van der Straaten Saskia , Van Aken Sara) , Fudvoye Julie , Boros Emese , Dotremont Hilde , Vanbesien Jesse , Mouraux Thierry , Chivu Olimpia , Logghe Karl , Reynaert Nele , Massa Guy , Depoorter Sylvia , Klink Daniel , Becker Marianne , Lysy Philippe , De Schepper Jean ,

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...

hrp0097p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

RXFP2: validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Syryn Hannes , Verdin Hannah , Van de Velde Julie , Peelman Frank , Becker Marianne , Brachet Cécile , den Brinker Marieke , Depoorter Sylvia , Fudvoye Julie , Klink Daniel , Lysy Philippe , Massa Guy , Reynaert Nele , Rochtus Anne , Staels Willem , Van Loocke Marlies , Sinclair Andrew , Ayers Katie , Bathgate Ross , Cools Martine , De Baere Elfride

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

hrp0086p1-p339 | Gonads &amp; DSD P1 | ESPE2016

Global and Sexual Quality of Life in Patients with Rokitanski Syndrome: A Comparative Study Between Surgical vs Non Surgical Management of Vaginal Agenesis in a French Cohort of 130 Patients

Bidet Maud , Cheikhelard Alaa , Christine Louis-Sylvestre , Jean Paniel Bernard , Karine Morcel , Magali Viaud , Amandine Baptiste , Caroline Elie , Yves Aigrain , Michel Polak

Background: Vaginal agenesis (VA) in MRKH syndrome can be managed either by surgery or autodilatations.Objective and hypotheses: To compare different managements of MRKH-VA in terms of quality of life, sexual function, anatomical results and complications.Method: National Multicentric observationnal study including 130 patients older than 18, at least one year after completing VA management, from October 2012 to April 2015. 84 had ...

hrp0086p1-p354 | Gonads &amp; DSD P1 | ESPE2016

Psychological Impact in Young Women of Announcement of a Utero-Vaginal Malformation (Mayer-Rokitansky-Küster-Hauser – MRKH Syndrome) and its Treatment

Gueniche Karinne , Ouallouche Chloe , Nataf Nicole , Bidet Maud , Cheikhelard Alaa , Paniel Bertrand-Jean , Louis-Sylvestre Christine , Morcel Karine , Viaud Magali , Elie Caroline , Baptiste Amandine , Aigrain Yves , Polak Michel

Background: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients’ experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 19–34...