hrp0095p1-195 | Thyroid | ESPE2022

Molecular Characterisation of Patients with Thyroid Dyshormonogenesis and Variants in DUOX2

Baz-Redón Noelia , Camats-Tarruella Núria , Fernández-Cancio Mónica , Antolín María , García-Arumí Elena , Mogas Eduard , Campos Ariadna , Fàbregas Anna , Gonzalez-Llorens Núria , Soler Laura , Clemente María , Yeste Diego

Introduction: Thyroid dyshormonogenesis (TD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. It presents clinical heterogeneity, from subclinical hypothyroidism (SH) to goitre. The clearer understanding of the pathways and enzymatic activities involved in the synthesis of thyroid hormones has allowed us to identify an important number of causal genes. Defective organification...

hrp0095p1-593 | Thyroid | ESPE2022

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis Associated with Defects in The TSH Receptor (TSHR)

Camats-Tarruella Núria , Baz-Redón Noelia , Fernández-Cancio Mónica , Antolín María , Garcia-Arumí Elena , Mogas Eduard , Campos Ariadna , Fàbregas Anna , Gonzalez-Llorens Núria , Soler Laura , Clemente María , Yeste Diego

Introduction: The thyrotropin receptor (TSHR) has a key role in the thyroid gland. It is involved in folliculogenesis, differentiation, organogenesis, and thyroid hormone synthesis and production. Its genetic defects can cause poor differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis, TD). Therefore, its phenotype spectrum is wide, ranging from severe congenital hypothyroidism (CH) to mild hyperthyrotropinemia. Some hetero...

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 ...

hrp0092p3-86 | Diabetes and Insulin | ESPE2019

Clinical Profile of Paediatric Patients with type 1 Diabetes Mellitus at a Tertiary Health Care Center in the Oriental Region of Northeastern Morocco

Ben Yakhlef Salma , Derkaoui Nada , Rouf Siham , Ezzerrouqi Amine , Latrech Hanane

Introduction: The growing pandemic of type 1 diabetes is considered as an enormous multifactorial public health challenge in the world. Many targeted interventions should be provided to improve type 1 diabetes management especially during childhood and adolescence.The purpose of this study is to elucidate the epidemiological, clinical and management profile of type 1 diabetes in Moroccan children and adolescents followed up in t...

hrp0082p2-d1-516 | Pituitary | ESPE2014

Neuroendocrine Dysfunctions Following Traumatic Brain Injury in Children: a 12-Month Prospective Study

Rojo Pilar , Carcavilla Atilano , Ortiz Irene , Arjona David , Borrego Raul , Aragones Angel

Background: Traumatic brain injury (TBI) is a frequent cause of endocrine dysfunctions. However, studies in children are scarce.Objective and hypotheses: To determine pituitary function in children after TBI. To analyze risk factors related with endocrine dysfunctions after 12 months follow up.Method: A prospective study of endocrine function in children after head injury was performed. Data was collected for baseline Glasgow coma ...

hrp0084fc11.5 | Neuroendocrinology | ESPE2015

Endocrinopathy after Intracranial Germ Cell Tumours (IGCT) is Disease Not Radiation-Related: Two Decades of Surveillance in a Large Tertiary Paediatric Cohort

Dimitrakopoulou Eftychia Ioanna , Chow Jasmine , Spoudeas Helen , Ederies Ash

Background: Childhood IGCT are rare, malignant tumours of the pituitary stalk and pineal region, highly curable (>90%) by multimodal therapies. Neuroendocrine outcomes are thus important. Deficits increase over time but, without longitudinal studies, it remains unclear whether they are primarily disease or treatment related.Objective and hypotheses: To determine, by longitudinal retrospective analysis in survivors, tumour- and treatment-related facto...

hrp0094p2-475 | Thyroid | ESPE2021

Case study of 13- year-old boy suffering from papillary thyroid cancer in stage pT3aN1bMX

Bossowski Artur , Borysewicz-Sanczyk Hanna , Stożek Karolina , Dzięcioł Janusz , Czarniecka Agnieszka , Handkiewicz-Junak Daria , Jarząb Barbara

Papillary cancer represents majority of thyroid malignancies in children. However prognosis remains very successful. In recent years, we use elastography, except biopsy and standard ultrasonography in thyroid lesions diagnostic. We present a case of a male patient at the age of 13 years, with a history of ADHD and school phobia who was referred to Endocrinology Outpatient Clinic due to partial empty sella syndrome. Family history of endocrinological disorders was negative. Ph...

hrp0094p2-322 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Growth abnormalities in patients with Type 1 diabetes

Messaoudi Najoua , Bouichrat Nisrine , Assarrar Imane , Derkaoui Nada , Karrou Marouan , Rouf Siham , Latrech Hanane ,

Key-words: Type 1 diabetes - growth abnormalitiesIntroduction: Autoimmune type 1 diabetes is the most common endocrine disease in children. Like any other chronic disease, it can affect their growth. The aim of our work was to describe the different growth abnormalities observed in type 1 diabetic patients followed-up in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in the easte...

hrp0092fc4.1 | Fat Metabolism and Obesity Session | ESPE2019

Involvement of Visfatin in Adipose Tissue Fibrosis Through Modulation of Extracellular Matrix Proteins

Nourbakhsh Mitra , Ezzati Mobasser Samira , Malekpour Dehkordi Zahra , Nourbakhsh Mona , Razzaghy Azar Maryam

Introduction: Obesity development and subsequent white adipose tissue (WAT) expansion is often accompanied by WAT fibrosis which leads to adipocyte dysfunction. Fibrosis is a condition in which extracellular matrix (ECM) proteins are increased aberrantly and results in immune cell infiltration, cytokine production and insulin resistance. Visfatin is an adipokine that is implicated in obesity and its metabolic consequences; however, its role in WAT fibrosis has...

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 ...