hrp0092p2-164 | GH and IGFs | ESPE2019

Brain Magnetic Resonance Imaging in Children with Isolated Growth Hormone Deficiency and Idiopathic Short Stature Diagnoses

Yesquen Pamela , Clemente María , Campos Ariadna , Mogas Eduard , Vázquez Élida , Carrascosa Antonio , Yeste Diego

Introduction: Diagnosis of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is not straightforward. Nowadays growth hormone (GH) stimulation tests play a key role in the diagnosis but they are controversial due to the lack of normative data, poor reproducibility and poor disease concordance.The magnetic resonance imaging (MRI) is also a tool in the study of patients with short stature. Structural alterations of the hypo...

hrp0084p3-996 | Gonads | ESPE2015

Endocrine Disruptor and Premature Puberty, is There Any Association?

Riano-Galan Isolina , Menendez Adrian Estrada , Lopez Ana Perez , Fuente Mar Coto , Moran Margot , Rodriguez-Dehli Cristina

Background: Endocrine disruptors (ED) can alter endocrine function. ED have become a part of everyday life and are found among phytoestrogens, active ingredients in pharmaceuticals, and additives or contaminants in food, personal care products, cosmetics, plastics and textiles.Objective: To describe cases of children with signs of early puberty who are exposed to ED.Method: Observational study of patients affected of premature pube...

hrp0094p2-461 | Thyroid | ESPE2021

Early reassessment in congenital hypothyroidism

Grau Gema , Bertholt María Laura , Chueca María , Artola Elena , Fernández María Concepción , Sarasua Ainhoa , Rodríguez Amaia , Vela Amaia , Berrade Sara , Naranjo Cristina , Puges Laura , Diez Ignacio , Espada Mercedes , Ascunce Nieves , Porras Begoña , Rica Itxaso

Introduction: 2020 ESPE guidelines recommend early reevaluation in primary congenital hypothyroidism (PCH) with thyroid in situ (TIS) and with levothyroxine dose lower than 3 mg/kg/day.Materials and Methods: Our Congenital Hypothyroidism screening program determine TSH and TT4 in dried blood spot (DBS) at 48 hours of life. A second DBS (DBS2) is indicated when the first is positive. Multicenter retrospective study (05/2016-05/2020; 105...

hrp0092p1-33 | Diabetes and Insulin | ESPE2019

Plasma Tocopherols and Carotenes are Decreased in Spanish Children and Adolescents with Insulin Resistance, Independently of Obesity

Rupérez Azahara I. , Lozano Gloria Bueno , Leis Rosaura , Gil-Campos Mercedes , Gil Ángel , Moreno Luis A. , Mesa María D. , Aguilera Concepción M.

Introduction: Childhood obesity and insulin resistance (IR) are rising in prevalence, increasing the future adults' cardio-metabolic risk. One of the potential mechanisms behind these alterations is oxidative stress, fruit of increased free radical production and diminished antioxidant defense. Although low plasma vitamin concentrations and oxidative stress have been observed to be associated with obesity in adults and children, their association with IR i...

hrp0092p1-359 | GH and IGFs (2) | ESPE2019

Insulin-Like Growth Factor 2 in Pediatric Gliomas: Expression, Intracellular Localization and Association with Clinical Outcome

Clément Florencia , Martin Ayelen , Venara Marcela , Fernández María Celia , Lombardi Mercedes García , Bergadá Ignacio , Pennisi Patricia

Background and Aim: Gliomas are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. In a previous work we have reported the quantitation of some components of the IGFs system in SNC pediatric tumours (IGF-1, IGF-2, IGF-1R, IR), being IGF-2 expression the most variable among all the genes studied.Our aim w...

hrp0084p3-821 | Endocrine Oncology | ESPE2015

Primary Hypogonadism after Haematopoietic Stem Cell Transplant in Paediatric Patients with Cancer

Alemany Maria Del Carmen De Mingo , Orti Raquel Segovia , Macian Francisca Moreno , Carinena Sara Leon , Moreno Maria Del Mar Andres , Navarro Jose Maria Fernandez

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

hrp0094p2-402 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Description of a new variant in the MAMLD1 gene in an infant with microphallus and hypospadias

Riera Cristina Aguilar , Tutaya Egusquiza Dellanira Pamela , Canestrino Gennaro , Fernández Paula , Camats Núria , Clemente María , Yeste Diego

Introduction: The MAMLD1 gene is expressed in fetal and adult testes. It contributes to the development and formation of the male external genitalia in late stages of fetal organogenesis (week 8-12) and to testosterone biosynthesis. The pathogenic genetic variants of this gene determine a significant reduction in plasma testosterone concentrations, although they are not undetectable. Its most common phenotypic manifestation is hypospadias, also described in patients with micro...

hrp0092p1-410 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Sertoli Cell Function after Chemotherapy in Boys with Hematologic Malignancies

Grinspon Romina P. , Arozarena Maria , Prada Silvina , Bargman Graciela , Sanzone María , Morales Bazurto Marjorie , Kanneman Ana , Bedecarrás Patricia , Gutiérrez Marcela , Gottlieb Silvia , Berenstein Ariel J. , Gabriela Ropelato María , Bergadá Ignacio , Aversa Luis , Rey Rodolfo A.

Introduction: Gonadotoxicity associated with chemotherapy of hematologic malignancies has been described mainly in adults, focused on the sensitivity of germ cells. Little attention has been placed on Sertoli cells during childhood and puberty, even though Sertoli cell development is essential for adult spermatogenesis.Objective: To assess function of the pituitary-testicular axis, with emphasis on Sertoli cell function,...

hrp0095rfc10.4 | GH and IGFs | ESPE2022

Recombinant PAPP-A2 induces sex-specific increases in body weight and length and changes in bone microstructure in adolescent mice with longitudinal growth reduction induced by Pappa2 deletion

del Mar Fernández-Arjona María , Rubio Leticia , López-Gambero Antonio , Rivera Patricia , Vargas Antonio , Rodríguez de Fonseca Fernando , A. Chowen Julie , Argente Jesús , Suárez Juan

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease that regulates IGF-1 availability, causes postnatal growth failure and changes in bone size and density in humans and mice. The present study aimed to determine the effects of daily administration (from PND5 to PND35) of recombinant murine (rm) PAPP-A2, in comparison to rmGH and rmIGF1, on mouse auxology and bone microarchitecture in homozygous Pappa2 knock-out (ko/ko) mice of both sexes. Hormone treatm...

hrp0095p1-470 | Fat, Metabolism and Obesity | ESPE2022

High carbohydrate diet results in sex-specific differences in energy homeostasis in mice with PAPP-A2 deficiency

J. López Gambero Antonio , del Mar Fernández-Arjona María , De Ceglia Marialuisa , Rubio Leticia , Rivera Patricia , Vargas Antonio , Vera-Fernández Carlos , Rodríguez de Fonseca Fernando , A. Chowen Julie , Argente Jesús , Suárez Juan

The growth hormone (GH)-insulin-like growth factor (IGF-1) system is essential for optimal human growth and energy homeostasis. Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease involved in the liberation of free IGF-1, leads to problems in growth and bone density in humans and mice. Patients with PAPP-A2 deficiency also present lower body mass and mild glucose intolerance. The present study aimed to determine the influence of 1 month of high carbohydr...