hrp0097p1-349 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Compound heterozygous variants in ROBO1 gene cause CPHD and middle line defects

Sertedaki Amalia , Macropoulou Panagiota , Nikaina Eirini , Binou Maria , Farakla Ioanna , Siahanidou Tania , Kanaka-Gantenbein Christina

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...

hrp0086fc8.6 | Growth: Clinical | ESPE2016

Birth Characteristics Explain One Third of Expected Deaths in rhGH-treated Patients Diagnosed with IGHD, ISS & SGA

Albertsson-Wikland Kerstin , Martensson Anton , Savendahl Lars , Niklasson Aimon , Bang Peter , Dahlgren Jovanna , Gustafsson Jan , Kristrom Berit , Norgren Svante , Pehrsson Nils-Gunnar , Oden Anders

Background: That mortality is not increased in rhGH-treated patients when adjusting for birth characteristics was recently published (1). When applying a developed mortality model of the general population, the observed and expected deaths in rhGH-treated IGHD, ISS and SGA patients (n=3847) where 21 and 21.99, respectively. The model includes gender, age, calendar year, gestational age (GA), birth lengthSDS (BLSDS), birth weightSDS (BW...

hrp0082lbp-d3-1017 | (1) | ESPE2014

Exploring the Pathogenesis of Hypothalamic Obesity: the Interaction of Hormonal, Neuronal and Psychological Factors

Steele Caroline , Powell Joanne , Kemp Graham , Halford Jason , Wilding John , Harrold Joanne , Das Kumar , Cuthbertson Daniel , Javadpour Mohsen , MacFarlane Ian , Stancak Andrej , Daousi Christina

Background: Acquired hypothalamic damage frequently causes obesity (BMI ≥30 kg/m2), often refractory to treatment. The interaction of hormonal, neuronal and psychological factors underlying hypothalamic obesity (HO) remains poorly understood.Methods: In fasted and fed states participants underwent blood sampling (GLP-1, insulin, PYY, ghrelin and glucose), fMRI scanning (viewing food/non-food photographs) and assessment of hunger and sati...

hrp0082p2-d1-412 | Growth Hormone | ESPE2014

ALS Deficiency due to a Novel and Two Already Described IGFALS Gene Mutations in an Unusual Non Consanguineous Family: Two Compound Heterozygous (Father and Son) and Two Heterozygous Carriers (Brother and Mother)

Scaglia Paula , Keselman Ana , Martucci Lucia , Karabatas Liliana , Ballerini Maria Gabriela , Domene Sabina , Johanna Acosta , Jasper Hector , Domene Horacio

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

hrp0095p2-96 | Fat, Metabolism and Obesity | ESPE2022

SGPT and FT4 correlations among Greek school age children with obesity or severe obesity

Leka-Emiri Sofia , Kosteria Ioanna , Vlachopapadopoulou Elpis , Dikaiakoy Eirini , Evangelopoulou Catherine , Kafetzi Maria , Petrou Vasilios , Michalacos Stefanos

Background/Aims: Pediatric obesity remains an ongoing serious international health concern. Whether liver dysfunction is related to thyroid dysfunction in this population is controversial. Compare SGPT, TSH, FT4 and insulin resistance indexes between children with obesity or severe obesity.Methods: 279 children (143 females) with ΒΜΙ (≥95percentile) (CDC BMI curves) were divided in two groups (Group 1, ob...

hrp0089p1-p048 | Diabetes & Insulin P1 | ESPE2018

Menstrual Cycle Disorders in Young Women with Type 1 Diabetes Mellitus

Paschou Stavroula A , Vryonidou Andromachi , Melissourgou Marina , Kosteria Ioanna , Anagnostis Panagiotis , Goulis Dimitrios G , Chrousos George P , Kanaka-Gantenbein Christina

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...

hrp0089p3-p149 | Fat, Metabolism and Obesity P3 | ESPE2018

The Effect of Vitamin D Supplementation on Metabolic Syndrome Parameters in Overweight and Obese Children and Adolescents in Greece

Giannios Christos , Nicolaides Nicolas , Farakla Ioanna , Papadopoulos Georgios , Gennitsaridi Sofia , Karampatsou Sofia , Kolaitis Gerasimos , Chrousos George , Charmandari Evangelia

Background: Accumulating evidence suggests that decreased 25-hydroxyvitamin [25(OH)D] concentrations are associated with components of the metabolic syndrome.Objective: The aim of our study was to investigate the effect of vitamin D supplementation on metabolic syndrome parameters in obese children and adolescents.Patients and methods: Two hundred thirty two (n=232) obese children and adolescents aged [mean ±S....

hrp0086p2-p270 | Diabetes P2 | ESPE2016

Seasonality of Type 1 Diabetes in Children and Adolescents According to Date of Diagnosis and Date of Birth in a Large Diabetes Centre

Vasilakis Ioannis Anargyros , Kosteria Ioanna , Tzifi Flora , Christopoulos-Timogiannakis Evangelos , Kotrogianni Paraskevi , Chrousos George , Kanaka-Gantenbein Christina

Background: There are studies supporting the seasonality of diabetes according to date of diagnosis and date of birth, with most T1D children being diagnosed in fall and winter and most of them been born in the same period. That is in concordance with previously published data from 1978 to 2008 in our country.Objective and hypotheses: To assess whether there is a seasonal variation of diabetes onset according to date of diagnosis and date of birth of inc...

hrp0086p2-p293 | Diabetes P2 | ESPE2016

Impact of Demographic Factors on Diabetic Ketoacidosis Occurrence at Type 1 Diabetes Onset in Childhood

Tzifi Flora , Kosteria Ioanna , Vasilakis Ioannis Anargyros , Christopoulos-Timogiannakis Evangelos , Koutaki Diamanto , Chrousos George , Kanaka-Gantenbein Christina

Background: Diabetic Ketoacidosis (DKA) in newly diagnosed children with Type 1 Diabetes (T1D) has been associated in previous studies with several factors, such as age or season of diagnosis.Objective and hypotheses: The aim of the present study was to assess the impact of age, gender, birth order and seasonality in DKA occurrence in newly diagnosed T1D pediatric patients.Method: Data of children aged 0–14 years newly diagnos...

hrp0086p2-p490 | Fat Metabolism and Obesity P2 | ESPE2016

Matsuda Index in Correlation with Clinical Indicators of Insulin Resistance in Children and Adolescents

Dikaiakou Eirini , Vlachopapadopoulou Elpis , Petychaki Foteini , Patinioti Ioanna , Anagnostou Elli , Karachaliou Feneli , Kafetzi Maria , Fotinou Aspasia , Michalacos Stefanos

Background: Obesity-related insulin resistance is present in obese children and Matsuda index is a method proposed to evaluate insulin resistance, using data obtained from the oral glucose tolerance test (OGTT).Objective and hypotheses: To investigate whether the clinical indicators of family history of obesity and/or Type II diabetes, acanthosis nigricans, and increased waist circumference are associated with insulin resistance, as calculated by the Mat...