hrp0084fc5.4 | Endocrine Oncology/Turner | ESPE2015

X Chromosome Gene Dosage and the Risk of Developing Congenital and Acquired Traits in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

Zenaty Delphine , Fiot Elodie , Boizeau Priscilla , Haignere Jeremie , Santos Sophie Dos , Carel Jean Claude , Leger Juliane , French Turner Syndrome Study Group

Background: The broad spectrum of associated diseases underlying the diverse phenotypes of patients with Turner syndrome (TS) has been extensively described. However, the underlying pathophysiological mechanisms remain unknown. Few studies have analyzed congenital and acquired diseases as a function of karyotype, and conflicting results have been obtained, calling into question the role of haploinsufficiency for genes located on the X chromosome.Objectiv...

hrp0084p2-484 | Hypo | ESPE2015

Challenged Diagnosis on Hypoglycaemia: Hirata Disease X Factitious Hypoglycaemia

dos Santos Tiago Jeronimo , Passone Caroline , Ito Simone , Savoldelli Roberta , Kuperman Hilton , Filho Hamilton Cabral de Menezes , Steinmetz Leandra , Dichtchekenian Vae , Manna Thais Della , Damiani Durval

Introduction: The Insulin Autoimmune Syndrome (IAS or Hirata Disease) is rare among children. Non-ketotic hyperinsulinaemic hypoglycemia and the presence of insulin auto-antibody (IAA) are the conditions to diagnose the syndrome. The occurrence of hypoglycemia is due to the binding of the antibody to the insulin molecule at the immediate postprandial, followed by this binomial dissociation, which releases free insulin on serum and triggers symptomatic hypoglycaemia.<p clas...

hrp0095rfc1.4 | Thyroid | ESPE2022

Usefulness of thyroid function assessment in infants born to mothers with thyroid dysfunction in pregnancy

Zohar Steinberg Ben-Zeev , Marina Peniakov , Clari Felszer , Scott A Weiner , Avishay Lahad , Shlomo Almashanu , Yardena Tenenbaum-Rakover

Introduction: Maternal thyroid disease is considered as a risk factor for abnormal thyroid function at birth as well as for long-term morbidity in offspring. The potential harmful effects on the neonate had led to the clinical practice of thyroid function assessment in infants born to mothers with thyroid disease during pregnancy, despite well-established newborn screening programs with include congenital hypothyroidism screening. We evaluated the usefulness o...

hrp0095rfc8.6 | Diabetes and Insulin | ESPE2022

Short-term effects of elexacaftor/tezacaftor/ivacaftor modulator therapy on glucose tolerance in young people with cystic fibrosis

Korten Insa , Kieninger Elisabeth , Krueger Linn , Bullo Marina , E. Flück Christa , Latzin Philipp , Casaulta Carmen , BoettcherClaudia

Background: CFRD is a unique subtype of diabetes mellitus, distinct from type 1 and type 2, harbouring β-cell dysfunction and β-cell loss and insulin resistance. Modulator therapies directly target the underlying defect of CF, modulating or correcting the function of the CFTR gene (mutation-specific). Few studies investigated the effect of modulators on CFRD and glucose metabolism. We performed an observational study on the short-term effects of the ...

hrp0095p1-197 | Thyroid | ESPE2022

A familial case of PAX8 gene variant with incomplete penetrance

Shreder Ekaterina , Vadina Tatiana , Solodovnikova Ekaterina , Shiryaeva Tatyana , Konuhova Marina , Dmitrieva Maria , Bogdanov Viktor , Nagaeva Elena , Bezlepkina Olga

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...

hrp0095p2-105 | Fat, Metabolism and Obesity | ESPE2022

A Comprehensive Multidisciplinary Management Plan Is Effective in Reducing the Prevalence of Overweight and Obesity in Adolescence

Binou Maria , Tragomalou Athanasia , Ramouzi Eleni , Koutaki Diamanto , Vourdoumpa Katerina , Manou Maria , Papadopoulou Marina , Kassari Penio , Charmandari Evangelia

Background: Obesity in adolescence represents a major health problem of our century owing to its epidemic proportions and the associated morbidity and mortality in adult life. In Greece, 41% of adolescents are overweight or obese.Aim: The aim of our study was to investigate the effectiveness of a comprehensive, multidisciplinary, personalized management plan at reducing the prevalence of overweight and obesity in adolesc...

hrp0092p2-61 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Osteogenesis Imperfecta: Genetic Evaluation

Castro-Feijoo Lidia , de la Torre Marina , Cabanas Paloma , Pino Jesus , Pombo Manuel , Barreiro Jesus , Loidi Lourdes

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

hrp0092p3-35 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Pseudohypoparathyroidism: Four Cases Reports

Bressiani Marina , Dall'Agnese Angélica , Godinho Adriana , Geremia César , Puñales Márcia

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease, characterized by parathyroid hormone (PTH) resistance and it refers to different mineral disorders of bone metabolism, classified as PHP type 1a (Albright-OHA Hereditary Osteodystrophy), PHP1b and PHP1c (OHA).Four cases reports: Four children were identified as having PHP, being three of them female. PHP was diagnosed at six years of age (three cases) and at...

hrp0092p3-40 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Barakat Syndrome (HDR Syndrome): Case Report

Bressiani Marina , Dall'Agnese Angélica , Geremia César , Godinho Adriana , Camassola Bruna , Puñales Marcia

Introduction: Barakat Syndrome (HDR Syndrome) is characterized by hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated to deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: A 9 years old male was admitted at an emergency complaining of upper and lower limbs pain and contractures that progressed with periodic tetany...

hrp0092p3-96 | Fat, Metabolism and Obesity | ESPE2019

Assessment of Cardiac Function in Obese Children and Adolescents with Metabolic Syndrome

Tragomalou Athanasia , Kosti Evangelia , Sveroni Konstantina , Loukopoulou Sofia , Binou Maria , Kourlaba Georgia , Papadopoulou Marina , Kassari Penio , Charmandari Evangelia

Background: Obesity in childhood and adolescence is often associated with dyslipidemia, hypertension, insulin resistance, inflammation, and disturbances in adipocytokine secretion, which lead to endothelial dysfunction and the development of atherosclerotic cardiovascular disease.Aim: To determine the prevalence of metabolic syndrome (MS) among obese children and adolescents attending our out-patient childhood obesity cl...