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...

hrp0084p2-197 | Adrenals | ESPE2015

Evaluation of Medical Treatment in the First 2 Years of Life with a New Dutch National Longitudinal Registry for Children with Congenital Adrenal Hyperplasia (CAH)

van der Linde Annelieke , van den Akker Erica , Bakker- van Waarde Willy , Hannema Sabine , Hoorweg-Nijman Gea , van de Kamp Hetty , Klink Daniel , Odink Roelof , Straetemans Saartje , van Trotsenburg Paul , Verkerk Paul , Claahsen-van der Grinten Hedi

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

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="...

hrp0089rfc9.5 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Non-Isolated Central Precocious Puberty: Prevalence of Brain Lesions and Other Associated Disorders

Wannes Selmen , El Maleh Monique , De Roux Nicolas , Zenaty Delphine , Simon Dominique , Martinerie Laetitia , Storey Caroline , Gelwane Georges , Paulsen Anne , Ecosse Emmanuel , Jean-claude Carel , Juliane Leger

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

hrp0086wg4.2 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

Hypercalcaemic Disorders in Children

Thakker Rajesh V.

Hypercalcaemic disorders in children may present with poor feeding, hypotonia, lethargy, dehydration, vomiting, polyuria, failure to thrive, seizures and hypertension. The causes of hypercalcaemia in children, which can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, are similar to those occurring in adults except that primary hyperparathyroidism and malignancy which the most common causes in adults, and account for >90% of adult patients with hype...

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...

hrp0089p3-p203 | GH &amp; IGFs P3 | ESPE2018

Results of Mecasermin Treatment in Pediatric Patients Evaluated for Severe and Partial Primary Deficiency of IGF-1

Stozek Karolina , Bossowski Artur

Background: Severe primary deficiency of insulin-like growth factor-1 (IGFD) being characterized by growth failure and short stature in children, constitutes an indication to recombinant human IGF-1 (mecasermin) treatment. It is defined by serum insulin-like-growth factor-1 (IGF-1) levels less than or equal to 2.5 th percentile, height less than or equal to −3 S.D.S., normal growth hormone (GH) secretion and exlusion of secondary causes of IGFD.<p clas...