Endocrine Abstracts

Background: FreeStyle Libre flash glucose monitoring system (FSL) has recently gained popularity as it can potentially reduce the number of finger prick capillary blood glucose tests (CBG). Initial short-term studies in adults have demonstrated accuracy although there is no paediatric data available to date. We aimed to assess the accuracy of FSL in children and young people and evaluated the user experience in routine clinical practice.Methods: About 31...

Introduction: During gender affirming therapy in transgender men (TXM), androgens are administered at escalating doses. As therapy progresses, changes in various analytical parameters occur that may be of potential use in establishing a personalised androgen dosage and avoiding deleterious effects of the medication. The aim of our study was to study the evolution of different parameters throughout the course of gender affirming therapy.Material and metho...

ObjectivesTo present the results of our series of endoscopic surgery of PA, performed in a third level hospital by an experienced team.MethodsRetrospective review of PA undergoing endoscopic surgery between 2011 – 2018 in our institution. Clinical variables and radiological characteristics and outcomes were collected at diagnosis, before surgery and for an average of 4.8 years of postoperative follow-up....

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH. R31C GNRH1 is the only missense mutation that affects the conserved GnRH decapeptide sequence. This mutation was identified in a CpG islet in nine nCHH subjects from four unrelated families, giving evidence for a putative ‘hot spot&#...

Introduction: Paragangliomas and pheochromocytomas (PGGs) are infrequent tumors of the autonomic nervous system that represent a diagnostic and therapeutic challenge. Management and follow-up of PGGs requires specialized knowledge and solid experience, which, given the rarity of these diseases, is available only in highly specialized centers. University Hospital La Fe (Spain) was designated a reference unit on Neuroendocrine Tumors by local sanitary authorities in 2018. The ai...

Context: There is no data on mortality of acromegaly diagnosed in the elderly. Objective: To compare clinical characteristics, GH-related comorbidities, therapeutic approaches and mortality of patients diagnosed before or after 2010 and to assess overall mortality compared with the general Spanish population. Setting: Spanish tertiary care centers.Design, Patients, and Methods: Retrospective evaluation of 118...

Mice with isolated GH deficiency (IGHD) due to GHRH receptor mutations live longer than their normal siblings with an extended healthspan, i.e., the period of life free from disabilities. Human IGHD individuals due to a mutation in the GHRH receptor gene from Itabaianinha, Brazil, has a normal lifespan with an extended healthspan (1). Our hypothesis is that their aging is accompanied by a delayed cognitive decline. Accordingly, we used the Literacy Independent Cognitive Assess...

Population aging has become a universal worldwide phenomenon. Developing countries (such as Portuguese-speaking countries, with a high rate of illiteracy) will see the greatest increase in the absolute number of elderly people, and dementia disorders will pose enormous challenges to public health in these countries. Although the decline in GH secretion with age has been associated with deleterious conditions of aging, our understanding is the opposite, that the decline in GH s...

Among its numerous comorbidities, obesity is often linked to central hypogonadism in men, i.e., low circulating levels of gonadotropins and testosterone. While this condition of obesity-induced hypogonadism (OIH) is frequently neglected, it has been suggested to contribute to the metabolic complications of male obesity. However, the mechanisms of OIH, and even its actual role in the metabolic alterations of obesity remain ill defined. Our recent data suggest that OIH is bound ...

Familial hypocalciuric hypercalcaemia types 1, 2, and 3 (FHH1, FHH2, and FHH3) are caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), G-protein subunit α11 (Gα11) and adaptor protein 2 sigma subunit (AP2σ), respectively; whilst autosomal dominant hypocalcaemia types 1 and 2 (ADH1 and ADH2) are due to gain-of-function mutations of CaSR and Gα11, respectively. We therefore hypothesised that gain-of-function AP2σ mutations may re...