Endocrine Abstracts

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...

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 ...

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...

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: >...

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 ...

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...

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 [email protected] Study is a national epidemiological study designed to determine the prevalence of diabetes, obesity and other cardiovascular risk factors in Sp...

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 ...