hrp0098p1-249 | Fetal and Multisystem Endocrinology | ESPE2024

The prevalence of thyroid disorders and coeliac disease in children wih type 1 diabetes mellitus seen in a tertiary hospital in resource limited setting

Thekiso Tebo , Tefera Endale , Bayani One , Joel Dipesalema

Background: Type 1 Diabetes Mellitus(T1DM) is a chronic condition where beta cells of the pancreas are unable to make insulin secondary to their autoimmune T-cell mediated destruction. Patients with one autoimmune disease are prone to having others as well. There has been a link found between Type 1 Diabetes, thyroid function and coeliac disease.Objective and hypotheses: The aim of this study is to determine the prevalen...

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 ...

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...

hrp0089p1-p031 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Systematic Screening Using DXA Lateral Vertebral Morphometry is Associated with a High Prevalence of Vertebral Fractures in Duchenne Muscular Dystrophy: Results from ScOT-DMD Study

Joseph Shuko , Shepherd Sheila , Marco Marina Di , Dunne Jennifer , McMillan Martin , Horrocks Iain , Ahmed S Faisal , Wong Sze Choong

Background: The prevalence of vertebral fractures (VF) in Duchenne Muscular Dystrophy (DMD) is currently unknown as systematic spine imaging is rarely performed.Objective: To determine the prevalence of VF in DMD and factors associated with VF.Method: A prospective study utilising systematic screening with DXA vertebral fracture assessment (VFA) was performed in all 47 eligible boys. 6/47 were excluded due to spinal instrumentation...

hrp0089p1-p048 | Diabetes &amp; Insulin P1 | ESPE2018

Menstrual Cycle Disorders in Young Women with Type 1 Diabetes Mellitus

Paschou Stavroula A , Vryonidou Andromachi , Melissourgou Marina , Kosteria Ioanna , Anagnostis Panagiotis , Goulis Dimitrios G , Chrousos George P , Kanaka-Gantenbein Christina

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...