Searchable abstracts of presentations at key conferences in endocrinology

ea0035p312 | Clinical case reports Thyroid/Others | ECE2014

Diagnosis of neonatal diabetes mellitus in the mother through the detection of hyperglycemia in her child

Torres Isabel , Santos M Angeles , Castano Luis

Introduction: Neonatal diabetes mellitus (NDM) is a rare disease diagnosed within the first months of life that is usually permanent in 50% of cases. Heterozygous mutations of KCNJ11 and ABCC8 genes encoding the two Kir6.2 and SUR1 subunits of the b-cell ATP-dependent potassium channel have been associated with NDM, which is characterized by a successful response to sulfonylureas.Case report: We present a 32-year-old woman diagnosed wit...

ea0081ep682 | Pituitary and Neuroendocrinology | ECE2022

A 29 year old woman with aggressive acromegaly as a single manifestation of multiple endocrine neoplasia type 1

Dolores Moure Maria , Catalan Gregorio , Pomposo Inigo , Badiola Miren , Miret Iker , Castano Luis , Gaztambide Sonia

Introduction: Parathyroid tumors are the most common (90%) and usually the first manifestation feature of MEN1 syndrome. The occurrence of anterior pituitary tumors in MEN1 syndrome may range between 10% and 60%. Pituitary involvement includes the initial manifestation of MEN1 syndrome in 10% to 25% of individuals and usually show more aggressive behavior; 20% secrete prolactin, fewer than 10% secrete GH, 5% secrete ACTH, and the remainder appear to ...

ea0020p232 | Bone/Calcium | ECE2009

Clinical and molecular characterization of Spanish patients with pseudohypoparathyroidism

Moure Maria Dolores , Fernandez-Rebollo Eduardo , Gaztambide Sonia , Perez-Nanclares Gustavo , Castano Luis , de Nanclares Guiomar Perez , Spanish PHP Group

Pseudohypoparathyroidism (PHP) is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone. Most of the PHP forms are caused by defects in GNAS: PHP-Ia (characterized by PTH and TSH resistance with Albright Hereditary Osteodystrophy) is caused by heterozygous inactivating mutations in those exons of GNAS encoding the α subunit of the stimulatory G-protein, and the autosomal dominant form of PHP-Ib (PTH an...

ea0037ep1002 | Thyroid (non-cancer) | ECE2015

Prevalence of thyroid dysfunction in Spain: diabetes study

Valdes Sergio , Maldonado-Araque Cristina , Tapia Maria Jose , Lago Ana , Perez-Valero Vidal , Goday Albert , Castano Luis , Delgado Edelmiro , Vendrell Joan , Rojo-Martinez Gemma , Soriguer Federico

Introduction: Thyroid dysfunction is a common health problem. Its prevalence may vary in different populations, and in Spain, it has not been sufficiently studied. The aim of this study was to evaluate the prevalence of thyroid dysfunction (clinical and subclinical) in our country.Materials and methods: The diabetes study is a national, cross-sectional, population-based survey. Target population: the entire Spanish population >18 years. Sample: >...

ea0056p364 | Diabetes (to include epidemiology, pathophysiology) | ECE2018

Influence of HLA pattern on the age at onset of type 1 diabetes mellitus

Fernandez Pedro Gonzalez , Rubio Elsa Fernandez , Etxebarria Ines Urrutia , Frutos Teba Gonzalez , Machado Natalia Maruri , Gonzalez Luis Castano , Saenz Sonia Gaztambide

Aim: To determine, in type 1 diabetes mellitus (T1DM) patients, if there is any relationship between the age at onset and the number of HLA risk alleles for T1DM (DRB1*03 and DRB1*04).Methods: Retrospective study. We selected patients with T1DM diagnosis (pancreatic autoimmunity and insulin-dependent diabetes) and age at onset >15 years, identifying 275 subjects (59.6% men and 40.4% women), with a median age at onset of 31 years (interquartile range ...

ea0081p68 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Development and validation of a new gestational diabetes mellitus (gdm) risk algorithm

Mendizabal Leire , Arregui Maddi , Valerio Johanna , Ramos Ana Maria , Barabash Ana , de la Torre Nuria Garcia , zulueta mirella , Arana Eunate , Saez Eva , Aranbarri Igotz , Martinez-Lage Juan , Cortazar Alicia , Gaztambide Sonia , Castano Luis , Simon Laureano , Luis Calle-Pascual Alfonso

Background and Objective: Gestational Diabetes Mellitus (GDM) is associated with life-long adverse outcomes for the mother and the baby. To date there is no rigorous clinical test for the assessment of GDM risk, since estimation of GDM risk is currently primarily based on clinical risk factors. Additional markers are needed to identify women at high risk. Our aim was to develop and validate a risk assessment model to identify women at high risk of GDM through an algorithm that...

ea0035p789 | Obesity | ECE2014

Climate and risk of obesity: study

Valdes Sergio , Maldonado-Araque Cristina , Garcia-Torres Francisca , Goday Albert , Calle-Pascual Alfonso , Castano Luis , Castell Contxa , Catala Miguel , Delgado Elias , Franch Josep , Gaztambide Sonia , Gomis Ramon , Menendez Edelmiro , Ortega Emilio , Vendrell Joan , Soriguer Federico , Rojo-Martinez Gemma

Introduction: It has been suggested that the lack of exposure to low ambient temperatures may be a contributor to the development of obesity. The aim of this study was to study possible associations between climate and the risk for obesity in the Spanish population using an ecological focus.Methods: The Study is a national epidemiological study designed to determine the prevalence of diabetes, obesity and other cardiovascular risk factors in Sp...

ea0081p400 | Pituitary and Neuroendocrinology | ECE2022

European Registries for Rare Endocrine Conditions (EuRRECa): results from the core registry on hypothalamic and pituitary conditions

Luisa Priego Zurita Ana , Appelman-Dijkstra Natasha , Biermasz Nienke , Bryce Jillian , Burman Pia , Castano Luis , Dattani Mehul , Dekkers Olaf M. , Fibbi Benedetta , Gan Hoong-Wei , Gaztambide Sonia , Haeusler Gabriele , Haufler Florentina , Katugampola Harshini , Helene Lasolle , L Muller Hermann , Raverot Gerald , Rica Itxaso , van Beuzekom Charlotte , Sumnik Zdenek , de Vries Friso , Zamanipoor Najafabadi Amir , Ahmed Faisal , M Pereira Alberto

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community. The Core Registry, one of its platforms, enables the collection of longitudinal patient and clinician reported outcomes. A module collecting aspects of the ...