Endocrine Abstracts

Pheochromocytomas and paragangliomas (PPGL) are catecholamine-producing neuroendocrine tumors that display the highest heritability rate among all human tumors. Genomic analyses revealed the existence of 2 main clusters of PPGL, i.e. cluster 1 containing SDHx- and VHL-mutated tumors which do not produce epinephrine, and cluster 2 including epinephrine-secreting PPGL related to RET, NF1, TMEM127 and MAX mutations. Early diagnosis and treatment of PPGL is crucial to prevent adre...

Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder affecting women in reproductive age. Women with PCOS exhibit 2-3x higher levels of circulating Anti-Müllerian Hormone (AMH) as compared to healthy women and it is unclear if the elevation of AMH is a bystander effect or is driving the condition. Moreover, PCOS has a strong heritable component, however the etiopathology of the disease and the mechanisms underlying its transmission remain t...

NC-CAH is diagnosed in pubertal/post-pubertal women because of androgen excess however, the risk of potential adrenal insufficiency is not known, and indication of systematic glucocorticoid replacement therapy is controversial.Design: Prospective controlled clinical study in a tertiary referral center. 20 women with NC-CAH (serum stimulated 17-OHP >10 ng/ml/250 μg, Synacthen) comparatively to matched healthy women, were included if they had not ...

Recently, we provided the first integrated genomic classification of pituitary neuroendocrine tumors (PitNETs), on a series of 134 tumors. This series covered all histological, secretion, invasion and growth speed types. This molecular classification supports the importance of pituitary lineage as proposed by the World Health Organization 2017 classification, but also individualizes new entities. Indeed, corticotroph tumors are split into three distinct molecular groups. In ad...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by cumulative heterotopic ossification (HO), often preceded by episodic flare-ups, leading to physical disability and early death. Initial misdiagnosis can occur in ~90% of individuals leading to unnecessary, often harmful interventions. FOP is diagnosed and managed by multiple specialists, including endocrinologists.Objective: A prospective, 36-month, global natural...

Objective: Polycystic ovary syndrome (PCOS) is more prevalent among women with type 1 diabetes (T1DM) than in general population. Autoimmune thyroiditis (AIT) is the most common autoimmunological disease in young women in reproductive age, especially in T1DM. Data in literature indicate the possible role of thyroid autoimmunity in PCOS pathogenesis. It has been suggested that positive concentration of thyroid peroxidase antibodies (TPOAbs) is associated with increased prevalen...

Introduction: Low vitamin D status has been associated to COVID-19 risk, and type 2 diabetic patients are a vulnerable group. Even though the Canarian archipelago is one of the sunniest spots in Europe, our prevalence of vitamin D deficit is known to be very high. The mandatory lockdown may have worsened this deficit, increasing the need for vitamin D supplementation.Objectives: Our main objective was to assess and compare the prevalence of vitamin D def...

Chronic exposure to elevated circulating glucocorticoids can lead to metabolic changes, which resemble those observed in Metabolic Syndrome. Features of the Metabolic Syndrome can be reversed by lowering systemic glucocorticoid levels or by treatment with a glucocorticoid receptor antagonist. At the intracellular level, exposure to glucocorticoids is regulated by two distinct 11beta-hydroxysteroid dehydrogenases, 11beta-HSD type 1 and type 2. 11beta-HSD1 predominantly acts as ...

RationaleObesity is associated with multiple comorbidities including nonalcoholic steatohepatitis (NASH). Despite its association with increased morbidity and mortality, treatment options are limited. Some studies have suggested that glucagon-like peptide-1 receptor agonists (aGLP-1) are associated with NASH resolution. Additionally, the effects of bariatric surgery on NASH-associated liver fibrosis are controversial.Methods<p ...

ObjectiveTo study the possible relationship between adherence to the Mediterranean diet and the metabolic syndrome. Material and methods: Retrospective observational study of patients evaluated in a prebariatric surgery consultation between November 2017 and November 2019, who were given a questionnaire of adherence to a Mediterranean diet. Anthropometric and analytical parameters related to the metabolic syn...