hrp0086p1-p338 | Gonads & DSD P1 | ESPE2016

Primary Ovarian Insufficiency in Childhood Cancer Survivors: A Report from the St Jude Lifetime Cohort (SJLIFE)

Chemaitilly Wassim , Li Zhenghong , Krasin Matthew , Wilson Carmen , Green Daniel , Klosky James , Barnes Nicole , Clark Karen , Frenandez-Pineda Israel , Metzger Monika , Ching-Hon Pui , Kirsten Ness , Kumar Srivastava Deo , Robison Leslie , Hudson Melissa , Sklar Charles , Yasui Yutaka

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

hrp0082p1-d1-239 | Thyroid | ESPE2014

Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism

Bonomi Marco , Duminuco Paolo , Salvatoni Alessandro , Maggi Mario , Buzi Fabio , Pilotta Alba , Radetti Giorgio , Beck-Peccoz Paolo , Campi Irene , Schoenmakers Nadia , Joustra Sjoerd , Wit Jan Maarten , Bernard Daniel , Nespoli Luigi , Bozzola Mauro , Persani Luca

Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ, TRH receptor (TRHR) or IGSF1 genes while the combined pituitary hormone deficits (CPHDs) are the consequence of defects in embryonic pituitary transcription factors or in the prokineticin receptor 2 (PROKR2).Patients series: Here we report nine males (M) and 15 fema...

hrp0082p2-d3-494 | Endocrine Oncology | ESPE2014

Three Year Experience of a National Interdisciplinary Initiative to Improve Outcomes for Children with Hypothalamic Pituitary Axis Tumours (HPATs) Using Multi-site Videoconferencing for Decision Making on Behalf of the UK HPAT Interest Group

Perelberg Daniel , Morillon Paul , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Nillofar , James Samantha , Korbonits Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

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="...

hrp0089p1-p067 | Diabetes &amp; Insulin P1 | ESPE2018

Insulin Resistance Parameters in Children Who Were Born Very Preterm and Adequate for Gestational Age

Garcia Hernan , Poggi Helena , Arancibia Monica , Peredo Soledad , Trincado Claudia , Moore Rosario , D'Apremont Ivonne , Andrade Daniela , Sifaqui Sofia , Ossa JT , Campino Carmen , Carvajal Cristian , Fardella Carlos , Baudrand Rene , Solari Sandra , Allende Fidel , Martinez-Aguayo Alejandro

Background: Very preterm neonates are at risk for metabolic syndrome later in life. Our objective was to compare anthropometric measures and insulin resistance variables between children who were born very preterm (VPT, <32 gestational weeks) and term (T, >37 gestational weeks), and adequate for gestational age (AGA).Methods: In this cross-sectional cohort study we recruited 113 children 5.0 to 8.5 years old from the preterm clinic of our institu...

hrp0082p3-d1-925 | Puberty and Neuroendocrinology | ESPE2014

The Timing and Evolution of Puberty in a Sample of School-Aged Children in a Brazilian City

Feibelmann Taciana Carla Maia , da Silva Adriana Paula , Silva Daniela Cristina , de Resende Elisabete Aparecida Mantovani Rodrigues , Scatena Lucia Marina , de Fatima Borges Maria

Background: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...

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...

hrp0086p1-p136 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Growth Characteristics of a Girl with Multicentric Carpo-Tarsal Osteolysis Caused by Novel Mutation in the MAFB Gene

Dusatkova Lenka , Potuznikova Kristyna , Zemkova Daniela , Marik Ivo , Rozenkova Klara , Lebl Jan , Pruhova Stepanka , Sumnik Zdenek

Background: Recently, mutations in the highly conserved transactivation domain of MAFB gene have been identified as a cause of multicentric carpo-tarsal osteolysis (MCTO), rare skeletal disorder characterised by extensive bone resorption predominantly of the carpal and tarsal bones and frequently accompanied by progressive renal impairment. The MAFB is a basic leucine zipper transcription factor that is involved in the regulation of osteoclastogenesis and renal develo...