hrp0086p2-p510 | Fat Metabolism and Obesity P2 | ESPE2016

Nonalcoholic Fatty Liver Disease: Evolution after 1 year of Follow-Up with Different Therapies

Mata Maria Angeles Santos , Viseras Irene Fernandez , Ruiz Jose Pedro Novalbos

Background: Fatty liver disease is diagnosed increasingly in obese children, which pathophysiology remains unexplained. Risk factors as insulin resistance, evolution of steatosis and hypertriglyceridemia, should be taken into consideration in its development.Objective and hypotheses: To analyse the prevalence of hepatic steatosis identified by ultrasound, as well as features and anthropometric data in our population divided into 2 groups: with steatosis ...

hrp0086p1-p738 | Pituitary and Neuroendocrinology P1 | ESPE2016

Oxytocin Deficiency is Associated with Hyperphagia and Weight Gain in Hypothalamic and Common Obesity: A First-in-Humans Proof-of-Concept Study

Gan Hoong-Wei , Leeson Clare , Aitkenhead Helen , Spoudeas Helen , Martinez-Barbera Juan Pedro , Dattani Mehul

Background: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology has been attributed to hyperphagia and hyperinsulinaemia. The wider roles of oxytocin (OXT) in regulating appetite and weight have recently emerged in animal and human studies, but there is no human evidence that hypo-oxytocinaemia contributes to weight gain.Hypothesis: Hypo-oxytocina...

hrp0082fclb2 | Late Breaking Abstracts | ESPE2014

Sonic Hedgehog is Required for Cell Specification of Rathke’s Pouch Progenitors During Normal Development and is Over-Expressed in Adamantinomatous Craniopharyngioma

Carreno Gabriela , Andoniadou Cynthia , Heywood Wendy , Mills Kevin , Dattani Mehul , Martinez-Barbera Juan Pedro

Background: Mouse studies have demonstrated the necessity of Sonic Hedgehog (SHH) for normal proliferation of Rathke’s pouch (RP) precursors. However, the possible function of SHH in pituitary cell specification remains to be assessed. Additionally, evidence suggests that SHH may be relevant in human adamantinomatous craniopharyngioma (ACP), a histologically benign, but clinically aggressive childhood tumour associated with high morbidity.Objective ...

hrp0082p3-d1-820 | Growth | ESPE2014

Socioeconomic Factors Influence rhGH Treatment Adherence and its Response in Children

Bel Joan , Martinez Maria , Murillo Marta , de Pedro Silvina , Granada Maria Luisa

Background: GH treatment requires regular, daily s.c. injections for very long periods of time when not virtually for a lifelong period. The mean final height attained with GH therapy is influenced by poor adherence to treatment.Objective and hypotheses: The main aim of this study was to identify non-adherent patients to GH therapy and to determine the influence of compliance in response to the treatment (IGF1 serum levels and growth velocity). We also e...

hrp0084p2-508 | Pituitary | ESPE2015

The IGSF1 Deficiency Syndrome: An Unusual Case

Aisenberg Javier , Ghanny Steven , Chartoff Amy , Zidell Aliza , Pedro Helio , Joustra Sjoerd , Losekoot Monique , Wit Jan

Background: IGSF1 deficiency has been recently found to be a novel cause of x-linked central hypothyroidism, macroorchidism and delayed puberty.Case presentation: We present a family, in which the proband was diagnosed with congenital central hypothyroidism by neonatal screening and treated accordingly. Further pituitary examination revealed an unmeasurable prolactin level, normal IGF1, normal cortisol and no abnormalities of the pituitary on MRI. The pa...

hrp0097p1-102 | GH and IGFs | ESPE2023

Assessment of clinical pediatric perception of short stature in childhood and challenges to treat with Growth Hormone in Brazil: A exploratory evaluation of a developing country daily practice.

Barquero Paula , Aranha Pedro , Souza Leonardo , Careli Guilherme , Veçoso Marcos , Freire Daniel , Sato Cleber

Background: Concerns about a child's growth are one of the most common topics parents express during pediatric visits and are a leading cause for referral to a pediatric endocrinologist. For the general pediatric, when short stature is diagnosed, its clinical management remains a challenge.Objective: The aim of the study was to approach and understand the perception from the general pediatrician about short stature,...

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 ...

hrp0097p1-584 | Thyroid | ESPE2023

National multi-center study of reevaluation of thyroid function in premature infants of less than 32 weeks of gestation and/or less than 1500g admitted to neonatal units

Campos-Martorell Ariadna , Ares Segura Susana , J Chueca Gandulain Maria , Grau Bolado Gema , Navarro Constanza , Serrano Costa Loreto , Gale Pola Ines , Fernandez Vallespin Laura , Pellicer Casanova Laura , Montaner Ramon Alicia , Puig Amoros Elisabet , Mora Sitja Marina , Rodriguez Amparo , Casano-Sancho Paula

Preterm and low birth weight(LBW) newborns are at risk of thyroid dysfunction during a critical period for neurodevelpment and this dysfunction can be missed in congenital hypothyroidism screening program(CHSP). Consequently, reassessment of thyroid function has been promoted in neonatal units, added to CHSP.Objectives: To evaluate prevalence and risk factors of thyroid dysfunction in≤32weeksGA and/or 1500g newborn, and compare differ...

hrp0095p2-152 | GH and IGFs | ESPE2022

IGF1 as reassessment method of GH deficiency in adulthood

Belen Ariza-Jimenez Ana , Antonio Ariza-Jimenez Jose , Jose Martinez-Aedo Ollero Maria , Pedro Lopez-Siguero Juan

Background: GH deficiency may not persist into adulthood. Thus, it is recommended to reassess it after reaching adult height. However, according to stimulation tests, they have poor specificity, reproducibility, and poor standardization of hormonal measurement, and they are expensive and involve risks.Objective and hypotheses: Establish if IGF1 would be a better reassessing method than stimulation tests in adult GH defic...

hrp0089fc10.3 | Late Breaking | ESPE2018

Identification of the MAPK/ERK Pathway as a Novel Therapeutic Target in Adamantinomatous Craniopharyngioma

Guiho Romain , Apps John R , Hong Ying , Hargrave Darren , Brogan Paul , Jacques Thomas S , Martinez-Barbera Juan Pedro

Adamantinomatous craniopharyngiomas (ACPs) are clinically challenging tumours, the majority of which have activating mutations in CTNNB1. They are histologically complex, showing solid tumor component comprised of different morphological cell types (e.g. β-catenin accumulating cluster cells and palisading epithelium), surrounded by a florid glial reaction with immune cells, but also a cystic component. ACP cysts often exert substantial mass effect on critical str...