hrp0089s6.3 | Molecular Mechanisms of Tissue Sensitivity to Glucocorticoids: Potential Clinical Implications | ESPE2018

Chemical Modification of the Glucocorticoid Receptor as a Determinant of Tissue Glucocorticoid Sensitivity: Implications to Circadian Rhythms, Stress Response and Treatment of Pediatric Leukemia

Kino Tomoshige

Glucocorticoid hormones virtually influence all human functions both in a basal homeostatic condition and under stress. Thus, many other biological pathways adjust glucocorticoid actions in local tissues (tissue glucocorticoid sensitivity) by targeting the single receptor molecule glucocorticoid receptor (GR) as part of the regulatory loop coordinating complex human functions. Among them, chemical modification of GR, such as by acetylation and phosphorylation, is highlighted a...

hrp0089p3-p016 | Adrenals and HPA Axis P3 | ESPE2018

Adrenals and HPA Axisa; Atypical Presentation of Adrenal Insufficiency

Khan Khalid

Case report: Atypical presentation of adrenal insufficiency: 13 year old presented with vomiting (one day), lethargy two weeks. mild dehydration, vitals stable, generally healthy, examination unremarkable, medication nill, history of insect bite two weeks ago, no allergies, started on I. V maintenance fluids, investigations (blood) normal, the only abnormal was low soduim, normal glucose and potassium, soduim was 122 mol/l, repeated soduim was 119 after the maintain ace 0.9% n...

hrp0089p3-p373 | Thyroid P3 | ESPE2018

Hypovitaminosis D and Chronic Autoimmune Thyroiditis Mammary Echostructural Involvements in Puberty

Ibadula Seila , Circo Eduard

Introduction: Benign breast pathology has a frequent onset during puberty-adolescence.Objectives: Differential evaluation of breast echostructure in puberty stage III/V, on Tanner scale, depending on the presence of thyroid autoimmunity and hypovitaminosis D.Method: Assessment of BIRADS score from 2 to 4 in three groups of girls associating premenstrual mastodynia: Group 1 - including patients with chronic autoimmune thyroiditis an...

hrp0084wg3.3 | DSD | ESPE2015

European Reference Network: Accomplishments of the COST Action DSDnet

Hiort Olaf

Background: The European Programme on Cooperation of Science and Technology (COST) funds the formation of networking activities with Horizon 2020. In November 2013, the COST Action DSDnet was started and currently 22 European countries as well as six additional partner countries participate. The EU plans to instal European Reference Networks (ERN) by 2016 for defined rare conditions.Objective and hypotheses: DSDnet encompasses five working groups (WGs) w...

hrp0092p2-254 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Paediatric Health Assistance to Transsexual Minor in the Multidisciplinary Care Unit of the Basque Country (Spain)

Rica Itxaso , Grau Gema , Vela Amaia , Rodríguez Amaia , Guadilla M. Luisa

In 2009, the National Health Service of the Basque Country created a Gender Identity Reference Unit (GIU-BC) to cover the health needs of the transsexual population with a multidisciplinary assessment: Psychiatry, psychology, endocrinology, plastic and reconstructive surgery. Pediatric endocrinologists and pediatric psychiatry were included in 2013.Aim: To know the activity of Pediatric Endocrinology in the GIU-BC since 2013.<p class...

hrp0089fc7.3 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Diazoxide-Induced Pulmonary Hypertension: UK Multicentre Retrospective Study on the Risk Factors, Monitoring Approach and Management Recommendations

Chen Suet Ching , Dastamani Antonia , Pintus Donatella , Yau Daphne , Aftab Sommayya , Bath Louise , Swinburne Craig , Hunter Lindsey , Giardini Alessandro , Christov Georgi , Senniappan Senthil , Banerjee Indraneel , Shaikh Guftar , Shah Pratik

Objectives: Diazoxide is first line treatment for hypoglycaemia due to hyperinsulinaemic hypoglycaemia (HH). However, the FDA has raised serious concerns regarding diazoxide-induced pulmonary hypertension (PH) in 2015. Although sporadic cases of PH have been reported, no HH cohort has been systematically characterised to understand severity and risk factors for diazoxide-induced PH.Methods: To investigate the onset, progress and associated factors in PH,...

hrp0086p2-p932 | Thyroid P2 | ESPE2016

Multinodular Goiter and Differentiated Thyroid Cancer in Pediatrics

Papendieck Patricia , Venara Marcela , Elias Eugenia , Cozzani Hugo , Mateos Fernanda , Maglio Silvana , de Lujan Calcagno Maria , Gruneiro-Papendieck Laura , Bergada Ignacio , Chiesa Ana

Background: In a recent report we have identified multinodular goiter (MNG) as a condition with an increased risk for thyroid malignancy in children and adolescents.Objective and hypotheses: To report the prevalence and characterization of a prospectively and uniformly followed cohort of pediatric patients with MNG and to retrospectively analyze differences between benign and malignant MNG before surgery in order to identify malignancy predictors.<p ...

hrp0092p1-273 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Hypergonadotropic Hypogonadism in 46, XX Adolescents Without Gonadotoxic Therapy: Clinical Features and Molecular Etiologies

Abali Zehra Yavas , Jolly Angad , Guran Tulay , Bayram Yavuz , Abali Saygin , Bas Serpil , Akdemir Zeynep Coban , Posey Jennifer Ellen , Helvacioglu Didem , Kirkgoz Tarik , Eltan Mehmet , Kaygusuz Sare Betul , Lupski James R , Bereket Abdullah , Turan Serap

Background: Hypergonadotropic hypogonadism(HH) in females results from primary gonadal failure related to genetic defects affecting ovarian development and function or acquired gonadal damage; limited knowledge exist regarding underlying genes involved or potential gene X environment interactions responsible for disease trait manifestations. While pathogenic variants in single genes, chromosomal abnormalities such as Turner syndrome and acquired gonadal damage...

hrp0092p2-131 | Fat, Metabolism and Obesity | ESPE2019

Serum 25-hydroxyvitamin D Levels and Insulin Sensitivity Across Pubertal Stages in Obese Children

Wankanit Somboon , Poomthavorn Preamrudee , Mahachoklertwattana Pat

Background: Decreased serum 25-hydroxyvitamin D (25-OHD) level has frequently been reported in obesity, a condition which is associated with insulin resistance. Insulin resistance was negatively associated with serum 25-OHD. Puberty is the period with altered insulin sensitivity. Previous studies showed conflicting results of the variation of serum 25-OHD levels across pubertal stages. However, data on serum 25-OHD levels across pubertal stages in obese childr...

hrp0092p1-358 | Fat, Metabolism and Obesity (2) | ESPE2019

Relationship Between RBP4 Level and Two of its Gene Polymorphisms with Body Composition and Metabolic Profile in Obese Children

Pascanu Maria-Ionela , Pop Raluca , Banescu Claudia , Hutanu Adina , Vasilache Simona , Marginean Oana

Background: The role of retinol binding protein 4 (RBP4) in the insulin resistance associated with obesity is still unclear and various studies have analyzed the role of its gene polymorphisms as a potential key to understanding the mechanisms involved.Aim: The current study aimed to analyze the relationship between RBP4 levels, the distribution of two SNP (rs3758539 and rs10882280) and the metabolic, anthropometric para...