hrp0086p1-p891 | Thyroid P1 | ESPE2016

Newborn Screening Program for Congenital Hypothyroidism: Eighteen Years of Experience in Buenos Aires Province, Argentina

Gonzalez Veronica , Esposito Mariela , Vitale Laura , Morin Analia , Fasano Victoria , Pattin Jorgelina , Celia Ferrari , Mariela Dietz , Gustavo Borrajo , Zulma Santucci , Viviana Balbi

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...

hrp0082p1-d2-69 | Diabetes (1) | ESPE2014

Activation of Insulin/IGF1 Signaling Could Increase Hypothalamic Lipid Anabolism in Non-Diabetic IRS2-Deficient Mice

Barrios Vicente , Baquedano Eva , Canelles Sandra , Gonzalez-Rodriguez Agueda , Burgos-Ramos Emma , Chowen Julie A , Frago Laura M , Valverde Angela M , Argente Jesus

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

hrp0082p2-d1-259 | Adrenals & HP Axis | ESPE2014

Inadequate Cortisol Response to Tetracosactide (Synacthen®) Test in NCCAH Patients, an Exception to the Rule?

Stoupa Athanasia , Briceno Laura Gonzalez , Pinto Graziella , Samara-Boustani Dinane , Flechtner Isabelle , Thalassinos Caroline , Bidet Maud , Simon Albane , Morel Yves , Bellanne-Chantelot Christine , Touraine Philippe , Polak Michel

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...

hrp0082p2-d2-380 | Fat Metabolism & Obesity (1) | ESPE2014

A New Case of Proopiomelanocortin Deficiency

Fuentes-Bolanos Noemi Auxiliadora , Madueno Francisco Jose Tinahones , Gonzalez Luis Castano , Gea Isabel Leiva , Ollero Maria Jose Martinez-Aedo , Lopez-Siguero Juan Pedro

Introduction: The proopiomelanocortin is a polypeptide of many biologically active peptides involved in many key functions which have not yet been clarified. The mutation in the gene encoding this polypeptide is associated with a clinical trials characterized by early-onset obesity, terciary adrenal insufficiency, and alteration of pigmentation. Eight cases with known genetic mutation have been published.Case report: Newborn male 27 days old from North A...

hrp0082p3-d2-685 | Bone (1) | ESPE2014

Autosomal-Dominant Hypocalcaemia, New Clinical Features

Gea Isabel Leiva , Fuentes-Bolanos Noemi Auxiliadora , Munoz-Garach Araceli , Gonzalez Luis Castano , Ollero Maria Jose Martinez-Aedo , Lopez-Siguero Juan Pedro

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...

hrp0084p2-440 | Gonads | ESPE2015

A Novel Androgen Receptor Gene Mutation in Two Patients with a 46, XY Disorder of Sex Development

Fernandez Maria Sanz , Arnao Maria Dolores Rodriguez , Sanchez Amparo Rodriguez , de Leon Esther Gonzalez Ruiz , Cancio Monica Fernandez , Parera Laura Audi

Background: Androgen insensitivity syndrome in its complete form (CAIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriated normal concentrations of androgens. Pathogenesis is the result of mutations in the x-linked androgen receptor (AR) gene, which encodes for the ligand-activated AR. We report the clinical, biochemical and molecular features of two affected sisters in whom a nove...

hrp0084p2-469 | Growth | ESPE2015

Major Improvement in Parental Perception of their Children’s Height-Specific Quality of Life after 1 Year of GH Treatment: Our Experience with the QoLiSSY Questionnaire

Gonzalez-Briceno Laura Gabriela , Viaud Magali , Flechtner Isabelle , Dassa Yamina , Samara-Boustani Dinane , Thalassinos Caroline , Pauwels Christian , Beltrand Jacques , Busiah Kanetee , Pinto Graziella , Polak Michel

Background: Short stature may be a source of social and affective stress in children and their parents, and thus impact negatively on their quality of life (QoL). Treatment by GH may improve QoL through normalisation of height.Objective: To evaluate height-specific QoL in short stature children after 1 year of GH treatment.Methods: Prospective study. Inclusion criteria were: having started GH treatment at Hôpital Necker-Enfant...

hrp0094p2-438 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Congenital adrenal hyperplasia in detail: A multicentric and interdisciplinary study in minors with different sexual development

Ignacio Diez-Lopez , Nerea Gonzalez-Temprano , Villalon Flor , Larreina de la Fuente Leire , Cancela Vanesa , Nuñez Francisco Javier , Hernandez Jone Miren

Of the 67 included DSD patients, 33% were HSCs. 68% women and 32% men, with a total concordance between legal sex, current gender and chromosomal sex. Median age: 10.5 years, IQR 8-14. The most frequent clinical form was non-classical (NC) 45.5%, followed by classical with saline loss (CPS) 41%. The distribution of each clinical form according to the karyotype is significant (P = 0.013), the most frequent with XY karyotype is CPS and in NC forms all cases are XX. Med...

hrp0097p1-264 | Fat, Metabolism and Obesity | ESPE2023

Implementation of the EOSS-P Risk Scale in children and adolescents living with obesity

Gonzalez Diego , Rodriguez Roberto , Garibay-Nieto Nayely , Villanueva-Ortega Eréndira , Aguilar-Cuarto Karina , Pedraza Karen , Fuentes Zendy , Ruiz Alejandra , María Hernandez Ana , Prado Edith , Ruiz Arturo

Body Mass Index (BMI) has a high association with body fat percentage and direct association with a higher degree of comorbidities. Categorizing patients only by the degree of obesity, as has been done over time, restricts the possibility of detecting and giving timely treatment to other aspects. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) has been proposed as a tool to categorize obesity not only by BMI, but also by assessing metabolic complications, functiona...

hrp0095p1-397 | Thyroid | ESPE2022

Molecular Diagnosis of Non-Autoinmune Subclinical Hypothyroidism in Paediatrics

Gonzalez-Llorens Nuria , Antolin Mate Maria , Clemente Leon Maria , Campos Martorell Ariadna , Mogas Viñals Eduard , Soler Colomer Laura , Tomasini Rosangela , Gonzalez-Morla Judith , Murillo Valles Marta , Aguilar Riera Cristina , Casano Sancho Paula , Bosch Muñoz Jordi , Escuer Morell Mercè , Ortigosa Gomez Sandra , Hernandez-Herrero Maria , Feliu Rovira Albert , Camats-Tarruella Nuria , Baz-Redon Noelia , Fernandez-Cancio Monica , Yeste Fernandez Diego

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...