Endocrine Abstracts

BackgroundMultiple Endocrine Neoplasia type 1 (MEN 1) is a genetic syndrome caused by inactivating mutations of the menin gene, which predisposes to the development of endocrine tumors. The causative mutations, clinical manifestations, and age of tumor development are highly variable. The objective of this study is to describe the characteristics of patients with MEN1 in our hospital.Material and methodsWe pe...

Background and aims: INSmutations can cause INS-MODy and have been described more frequently in cases of neonatal diabetes mellitus. The reported phenotypic expression of INS-MODy is quite variable.Objective: To clinically, biochemically and molecularly characterize INS-MODy patients in two Spanish tertiary level hospitals during the period 2009-2023.Methods: Cross-sectional study that included 121 pediatric patients with ...

Introduction: Bilateral adrenal hemorrhage (BAH) is a rare clinical condition (estimated incidence between 0.14% –1.8%, according to postmortem studies) and life-threatening due to the development of adrenal crisis, after the destruction of 90% of each adrenal gland. A mortality rate of 15% has been reported despite treatment, but it depends on the severity of the underlying condition, reaching 90% in cases of sepsis, or even higher if it is not diagnosed quickly enough....

Background: Medical gender transition is a personal and complex process that can have irreversible health consequences. Detransition is the process of stopping and/or reversing partially or totally and temporarily or permanently the social, legal and/or medical changes achieved during gender transition. The current prevalence of detransition is unknown, most likely underestimated.Aim: To determine the prevalence and describe the sociodemographic and heal...

Introduction: Evidence suggests that, for the same mean glucose level, protein glycation may be different and that this may have an impact on the occurrence of complications. We currently have GMI that estimates mean glucose measured with the FreeStyle Libre 2 and HbA1c determined in the laboratory.Objectives: To analyse the proportion of “rapid glycaemic” patients in our clinical setting (HbA1c-GMI>0.5) and to assess the prevalence of micr...

Introduction: The clinical presentation of ectopic Cushing’s syndrome secondary to pheochromocytoma differs from the classic manifestations of these endocrinopathies separately. This cosecretion causes greater morbidity, requiring a complex preoperative preparation. We describe two clinical cases, a 46-year-old male with grade II overweight and a 65-year-old female with grade I obesity, both with a personal history of hypertension poorly controlled with 7 and 3 antihypert...

Introduction and Objectives: Although Next Generation Sequencing (NGS) technologies have significantly improved the molecular diagnosis of MODy, there is still a high percentage of cases in which the clinical suspicion remains without confirmatory molecular diagnosis. The main objective was to identify new candidate genes for MODy, by means of targeted NGS of a cohort of adult patients with clinically suspected MODy, in whom variants in the 14 known MODy genes implicated in it...