hrp0089rfc5.5 | Thyroid | ESPE2018

Evidence for a Founder Effect in Multiple Endocrine Neoplasia 2

Fanis Pavlos , Skordis Nicos , Frangos Savvas , Christopoulos George , Spanou-Aristidou Elena , Andreou Elena , Manoli Panayiotis , Mavrommatis Michalis , Nicolaou Stella , Kleanthous Marina , Cariolou Marios A , Christophidou-Anastasiadou Violetta , Tanteles George A , Phylactou Leonidas A , Neocleous Vassos

Purpose: Multiple Endocrine Neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refer to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Methods and Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10–11 and 13–16. Genotyping with STR genetic markers ...

hrp0089p1-p183 | Growth & Syndromes P1 | ESPE2018

Carriers of IGF1-receptor Mutations As A Subgroup of SGA Patients: A Comprehensive Retrospective Comparison of Response to rhGH Treatment and Health Profile

Gopel Eric , Klammt Jurgen , Rockstroh Denise , Pfaffle Heike , Schlicke Marina , Bechtold-Dalla Pozza Susanne , Gannage-Yared Marie-Helene , Gucev Zoran , Mohn Angelika , Harmel Eva-Maria , Volkmann Julia , Bogatsch Holger , Beger Christoph , Gausche Ruth , Weihrauch-Bluher Susann , Pfaffle Roland

Objective: IGF-1 receptor mutations (IGF1RM) are a rare abnormality; however, affected patients exhibit severe postnatal growth retardations without catch-up growth. Although several cases of IGF1RM have been described, a comprehensive retrospective analysis of the potential benefit of rhGH treatment is still missing. The aim of this study was therefore to investigate baseline auxology, response to rhGH therapy and potential metabolic effects in patients with IGF1RM in compari...

hrp0084p3-785 | DSD | ESPE2015

Recurrent Orchitis in a Patient with True Hermaphroditism

de Souza Leticia Guimaraes , Berrutti Barbara , Junior Jose Antonio Diniz Faria , Ybarra Marina , Steinmetz Leandra , Cominato Louise , Filho Hamilton de Cabral Menezes , Kuperman Hilton , Manna Thais Della , Damiani Durval

Background: Ovotesticular Disorder of Sex Development (OTDSD – true hermaphroditism) is rare, characterized by the presence of both presence of both testis and ovay tissue. Usually, these patients seek medical attention due to ambiguous genitalia.Case presentation: A 15-year-old boy, with ‘atypical’ genitalia and breast enlargement came for surgical correction. His genitalia had a more masculine aspect at birth and he had been submitted to...

hrp0094p1-112 | Fat, Metabolism and Obesity B | ESPE2021

Evaluation of the BigO behavioral indicators in overweight and obese children and adolescents

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 , Sarafis Ioannis , Diou Christos , Lekka Eirini , Maglaveras Nicos , Delopoulos Anastasios , Charmandari Evangelia ,

Background: Obesity represents one of the most challenging public health problems of our century. According to the World Health Organization, there is a need to create reliable monitoring and behavioral systems, and to investigate their effectiveness in preventing childhood obesity.Objective: To evaluate the BigO behavioral indicators in a pediatric population in Greece.Methodology: The study was c...

hrp0094p2-173 | Fat, metabolism and obesity | ESPE2021

Evaluation of the BigO system during the COVID-19 outbreak 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: Since December 2019, the world has witnessed a global pandemic due to SARS-CoV-2 coronavirus (COVID-19), which has led to lifestyle changes as a result of Public Health Regulations and Guidelines introduced by governments worldwide.Objective: To determine the body mass index (BMI) trajectory in children and adolescents with overweight and obesity with respect to the COVID-19 outbreak in Greece.<p class="a...

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="...

hrp0097p2-43 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Persistent Müllerian duct syndrome and the identification of a yet unreported homozygous mutation in AMHR2 gene

Cima Luminita-Nicoleta , Oprescu Raluca , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Dumitrache Sabina , Grosu Iustina , Draghici Isabela , Chirita-Emandi Adela , Puiu Maria , Gabriela Barbu Carmen , Viorica Popescu Mihaela , Fica Simona

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...

hrp0082p1-d1-198 | Reproduction | ESPE2014

Stability Conditions in Estradiol Matrix Patches; in vitro Studies for Application in Pediatrics

Ankarberg-Lindgren Carina , Sas Theo

Background: We have previously shown that estradiol (E2) matrix patches for adults could be cut in smaller pieces to administer low doses for pubertal induction in girls with hypogonadism. With a slow increase of the patch size during a few years, serum E2 levels in normal girls undergoing puberty can be closely mimicked.Objective and hypotheses: To evaluate storage conditions once the patch has been cut.Metho...

hrp0084wg6.5 | Turner Syndrome | ESPE2015

Report on the Progress and Difficulties on Transdermal Estradiol Supplementation in Europe

Sas Theo , Ankarberg-Lindgren Carina

Background: The Turner syndrome (TS) Working Group of the ESPE intends to start an international study comparing transdermal estradiol (E2) vs oral E2 in Europe in girls with TS. For this, stable and reliable products for children are needed, for use in different countries with different climates. It has previously been shown that E2 matrix patches for adults can be cut in smaller pieces to administer low doses for pubertal induction in girls. The Turner Working Group plan to ...

hrp0095p1-417 | Adrenals and HPA Axis | ESPE2022

A patient with autoimmune polyglandular syndrome type 1 with atypical presentation

Bazdarska Yuliya , Yordanova Nikolinka , Hristozova Hristina , Krumova Darina , Iotova Violeta

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is &acy; rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.Case presentation: We report a 12 years ol...