hrp0097rfc6.5 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Efficacy and security of gonadotropin treatment in adolescents with congenital hypogonadotropic hypogonadism

Sayol-Torres Laura , González Judith , Gonzalez Núria , Campos Ariadna , Mogas Eduard , Yeste Diego , Clemente Maria

Objective: To describe efficacy and security of treatment protocol with gonadotropins in adolescents with hypogonadotropic hypogonadism (HH).Methods: Prospective study of patients with HH who received hGH and rhFSH in puberty. HH diagnosed during first months of life or in adolescence (testicular volume<4cc in >16 year-old with FSH<1.2UI/L, testosterone<40ng/dL and GnRH-test with LH-peak<6UI/L)<p class...

hrp0095p1-522 | Growth and Syndromes | ESPE2022

Positive impact of the TuiTek® patient support programme on caregivers of patients receiving treatment for growth hormone deficiency in Argentina

Sordelli Micaela , Debicki Matías , Gonzalez Judit , María Sosa Ana , Hernán Cejas Leopoldo , Ginaca Romina , Jheeta Amrit , Malik Sumaira , Koledova Ekaterina , Assefi Aria

Background: Good adherence to recombinant human growth hormone (r-hGH) is crucial to achieve optimal growth outcomes in children with GH deficiency (GHD). Controlling factors that negatively impact adherence is difficult in clinical practice. In order to obtain a better understanding of caregiver behaviour, an Argentinian patient support programme (PSP) implemented TuiTek®, a personalised programme comprising behavioural change training, call guides...

hrp0095p1-356 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of The Arginine-Stimulated Copeptin Test in Polyuric Syndrome in Paediatrics. Experience in Three Patients

Gonzalez-Llorens Nuria , Biagetti Biagetti Betina , Mogas Viñals Eduard , Puerto Carranza Elsa , Tomasini Rosangela , Campos Martorell Ariadna , Yeste Fernandez Diego , Clemente Leon Maria

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) can be challenging. Copeptin is the C-terminal segment of the vasopressin precursor peptide that represents a novel and stable biomarker. Arginine infusion produces a nonosmotic stimulus that causes an increase in copeptin concentrations in healthy subjects. Arginine-stimulated copeptin concentrations have been used to differentiate between patients wi...

hrp0095p2-144 | GH and IGFs | ESPE2022

Growpati Study: Clinical and genetic characterization of a cohort of patients with short stature due to severe primary IGF1 deficiency

Stoupa Athanasia , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Gonzalez-Briceno Laura , Thalassinos Caroline , Amselem Serge , Legendre Marie , Netchine Irene , Brioude Frederic , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...

hrp0092p1-249 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Use of Desmopressin for Bilateral Inferior Petrosal Sinus Sampling (BIPSS) in Pediatric Patients with Cushing Disease (CD)

Gil Silvia , Di Palma Isabel , Vaiani Elisa , Viterbo Gisela , Requejo Flavio , Ramos Javier Gonzalez , Lazzati Juan Manuel , Lubieniecki Fabiana , Rugilo Carlos , Ciaccio Marta

Introduction: BIPSS before and after desmopressin stimulation has been shown to be a useful tool for diagnosis of ACTH-dependent CD and negative magnetic resonance imaging (MRI)or positive MRI but inconsistent biochemical data, in adult patients. However, little is known about its usefulness in pediatric population.Objective: To evaluate the prevalence of negative MRI, the sensitivity of BIPSS before and after desmopress...

hrp0092p2-128 | Fat, Metabolism and Obesity | ESPE2019

Is one year of Diet and Physical Activity Program for Obese Children Enough to Revert the Metabolic Disorders?

Garcia Cuartero Beatriz , Garcia Lacalle Concepcion , Sanchez Escudero Veronica , Sanchez Salado Laura , Martin Garcia Maria , Ara Royo Ignacio , Gonzalez Vergaz Amparo

Objetives: To analyse clinical and laboratory characteristics of an obese pediatric population.To assess their response to specific program consisting in modification of their nutritional habits and physical activity .Material and Methods: Obese patients completed a year of group therapy with nutritional education and physical activity. We analysed at the beggining and after a year anthropometry an...

hrp0089p3-p331 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

GnRH Analogues and Cross-Sex Hormonal therapy: Side Effects in Transgender Youth

Palma Cristina Mora , Fernandez Julio Guerrero , Martin Nerea Itza , Villalobos Arancha Ortiz , Bonis Ana Coral Barreda , Fresno Luis Salamanca , Casado Isabel Gonzalez

Background: Transsexuality during childhood/adolescence is a complex condition usually ending in dysphoria (GD). The prevalence of transgenderism is increasing in Pediatrics. In the process of sexual reassignment, a correct pharmacological treatment and the knowledge of possible consequences are necessary.Objetive: The objective of this study is to present the evolution of the physical and analytical characteristics and side effects in Transgender childr...

hrp0086fc4.1 | Pathophysiology of Obesity | ESPE2016

Contribution of Rare CNVs and Point Mutations to the Etiology of Severe Early-onset Obesity

Serra-Juhe Clara , Martos-Moreno Gabriel A , Bou Francesc , Flores Raquel , Rodriguez-Santiago Benjamin , Gonzalez Juan R , Argente Jesus , Perez-Jurado Luis A

Background: Studies aimed at elucidating the pathophysiology of obesity consistently describe it as a highly heterogeneous disorder at both clinical and molecular level. Despite rare monogenic forms and several regions of susceptibility have been defined, the genetic causes underlying the disease remain largely unknown.Objective and hypotheses: We aimed to identify novel genetic abnormalities in a cohort of Spanish children with severe non-syndromic earl...

hrp0086rfc13.7 | Management of Obesity | ESPE2016

Early Onset Obesity and Hyperphagia Associated with Defects in the GNAS Gene

Garcia Marta , Espinosa Nuria , Guerrero-Fernandez Julio , Salamanca Luis , Morais Ana , Gracia Ricardo , Elkoro Intza Garin , Casado Isabel Gonzalez , de Nanclares Guiomar Perez , Moreno Jose C.

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...

hrp0086p2-p681 | Growth P2 | ESPE2016

Evaluation of GH Deficient Pre Pubertal Children Treated with Omnitrope® Using the AuxoLog Computer Program

del Campo Maria Ruiz , Gonzalez Jose Revorio , Lechuga Alfonso , Gila Ana Lucia Gomez , Cancio Monica Fernandez , Carrascosa Antonio , Garcia Margarida Palla

Background: AuxoLog is a validated computer program that evaluates auxologic parameters comparing them with the Spanish growth charts. It also allocates subjects to the corresponding pubertal development group.Objective: To assess the evolution of auxological parameters in GH deficient (GHD) pre pubertal children treated with Omnitrope for a minimum of 2 years prior to puberty.Method: This study is non-interventional, retrospective...