hrp0084p2-301 | Diabetes | ESPE2015

Evaluation of Continuous Glucose Monitoring in Cystic Fibrosis Patients

Bilbao Laura , Clemente Maria , Costas Laura , Gartner Silvia , Losada Milagros , Armengol Eulalia , Yeste Diego , Carrascosa Antonio

Introduction: Use of continuous glucose monitoring (CGM) as a diagnostic tool for cystic fibrosis-related diabetes (CFRD) is receiving increasing attention. We aimed to: i) describe the glucose profile by CGM in CF patients >10 years of age; ii) compare CGM and oral glucose tolerance test (OGTT) results; and iii) evaluate lung function and nutritional status changes over the previous year.Methods: Prospective study of CF patients aged ≥10 years...

hrp0086p1-p486 | Fat Metabolism and Obesity P1 | ESPE2016

Multidisciplinary Intervention Programme in Childhood Obesity- Review of Service

Jones Jeremy , Wallach Peri , Knoud Ellis , Hind Ruth , Robinson Susan , Morrison Jillian , Shaikh M Guftar

Background: A multidisciplinary team (MDT) intervention may improve severe obesity in children through education and life-style change.Objective and hypotheses: MDT intervention leads to improvements in clinical measures of obesity.Method: Participants were selected by criteria: <16 years old; BMI >3.5SDS or BMI >2.5 SDS with obesity-related co-morbidity. Children and their families, attended intervention sessions over ...

hrp0082pl1 | Closed-Loop System: Dream or Reality? | ESPE2014

Closed-Loop System: Dream or Reality?

Phillip M

Despite the fact that patients with diabetes and medical staff are doing their best to achieve tight glycemic control, most patients all over the world do not achieve the goal. Good glycemic control is crucial to prevent diabetes related complications as well as hypoglycemic episodes, seizure, coma and death. The Diabetes wiREless Artificial Pancreas ConsortiuM (DREAM) was established by three diabetes centers in Slovenia, Germany and Israel, with a goal to reduce the risk of ...

hrp0082s1.2 | Disorders of Gsalpha Signaling | ESPE2014

McCune–Albright Syndrome

Collins M

The McCune–Albright syndrome can be a disease of striking complexity, the management of which can be challenging. However, an understanding of the physiologic consequences of the underlying molecular and developmental biology makes the evaluation and treatment of this disease relatively straightforward. MAS arises from activating mutations in the ubiquitously expressed cAMP-signaling protein, Gsα. The mutations occur very early in development, prior to gas...

hrp0082wg1.3 | Bone &amp; Growth Plate | ESPE2014

New Therapies in Metabolic Bone Disease: Denusomab

Collins M

Osteoclasts are bone-resorbing cells important in normal growth plate development and bone remodeling. The development of osteoclasts is potently driven by mononuclear RANK and osteogenic cell RANKL interaction. Denosumab is a monoclonal antibody drug that targets RANKL and inhibits osteoclastogenesis. It is a potent and effective treatment for pathologic processes that involve bone resorption, such as osteoporosis and bone metastases, conditions for which it is approved. Deno...

hrp0094fc7.1 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

The Use Of e-REC For Capturing The Occurrence Of COVID-19 Infections In People With Rare Endocrine Conditions

Bryce Jillian , Di Guisto Vicki , Ali Salma R. , Alexandraki Krystallenia , Badiu Corin , Baronio Federico , Biermasz Nienke R. , Brandi Maria Luisa , Castinetti Frederic , Ceccato Filippo , Chifu Irina-Oana , Cools Martine , Danne Thomas , Druce Maralyn , Esposito Daniela , Falhammar Henrik , Fugazzola Laura , Gan Hoong-Wei , Giordano Roberta , Isidori Andrea M. , Johannsson Gudmundur , Karavitaki Niki , Linglart Agnes , Luger Anton , Maffei Pietro , Marazuela Monica , Jaksic Vladka Pandzic , Paschou Stavroula A. , Persani Luca , Domingo Manuel Puig , Reisch Nicole , Schalin-Jantti Camilla , Akker van den Erica L.T. , Vassiliadi Dimitra , Young Jacques , Appelman-Dijkstra Natasha , Grozinsky-Glasberg Simona , Pereira Alberto M. , Ahmed S. Faisal ,

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

hrp0095fc7.5 | Growth and Syndromes | ESPE2022

Population-based assessment of cardiometabolic-related diagnoses in youth with Turner Syndrome: A PEDSnet Study

Davis Shanlee , Furniss Anna , Pyle Laura , Nokoff Natalie

Background: Cardiovascular diseases are the leading cause of premature death among women with Turner syndrome (TS). Studies in youth with TS suggest that cardiometabolic-related dysfunction is present in childhood, however these small convenience samples may not be generalizable to the whole TS population. PEDSnet, the largest pediatric Health Learning System in the United States (US) representing >6 million children, offers a unique opportunity to examine ...

hrp0095p1-311 | Growth and Syndromes | ESPE2022

Variability of the Noonan syndrome phenotypic spectrum in four patients carrying novel LZTR1 gene variants

Meneghin Alice , Mozzato Chiara , Trevisson Eva , Guazzarotti Laura

Noonan syndrome is a genetic condition caused by dysregulation of RAS-MAPK pathway (RASopathy) characterized by great clinical variability and genetic heterogeneity. Many genes has been associated with the disease, including recently LZTR1, which is causative of both dominant and recessive forms. Currently less than one hundred cases of Noonan syndrome has been associated with LZTR1 variants then phenotype related to this gene is poorly known. Here we describ...

hrp0095p1-335 | Multisystem Endocrine Disorders | ESPE2022

Early endocrinological deficiencies can anticipate the diagnosis of mitochondrial diseases: phenotype evolution of a rare MT-TG gene variant

Mozzato Chiara , Carecchio Miryam , Salviati Leonardo , Zeviani Massimo , Guazzarotti Laura

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...

hrp0092p1-418 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Epidemiology of Diagnoses of Sex Development Disorders Based on the Registry of Rare Diseases, in a Large Area of North-Eastern Italy

Guazzarotti Laura , Censi Simona , Gutierrez Joaquin , Azzolini Sara

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.Material and Methods: We could retrospectively analyze t...