Endocrine Abstracts

cAMP/PKA pathway activation is frequently involved in endocrine tumors with overactivity. The Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia syndrome which associates cardiac myxomas, spotty skin pigmentation and endocrine overactivity. Mutations in the PRKAR1A gene located at 17q22-24 and encoding for the R1A regulatory subunit of protein kinase A have been found in about 60% of CNC. These mutations are heterozygous germline mutations leading to ab...

Increased RhoA/Rho-kinase (ROK) signalling is known to impair erectile function. Spontaneously hypertensive rats (SHR) over-express penile RhoA and show an impaired erectile response. We tested treatments known to inhibit RhoA activation, on erectile function and sildenafil responsiveness in SHR. SHR have been treated for two weeks with atorvastatin (5 and 30 mg/Kg/day), or with elocalcitol (30 μg/Kg/day), a vitamin D receptor (VDR) agonist. The normotensive Wistar Kyoto ...

Objectives: Pregnancy and early infancy are periods when increased demand for thyroid hormone can result in subclinical hypothyroidism (SH). SH is frequently a prodrome to autoimmunity, but may be a compensation mechanism for an underlying genetic defect. The W546X mutation of the thyrotropin receptor (TSHR) is present at a frequency of 1 in 180 in a Caucasian population. We aimed to investigate whether W546X was the cause of SH presenting in pregnancy and early infancy.<p...

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Objectives: Hypogonadism is often associated with diabetes mellitus and both conditions represent major risk factors for erectile dysfunction (ED). The aim of this study was to evaluate the effect of diabetes-induced hypogonadism on ED using two distinct animal models: alloxan-rabbits and streptozotocin (STZ)-rats.Methods: A subgroup of diabetic animals was Testosterone (T) replaced. After 8 weeks from induction of diabetes, erectile function was evaluat...

Clinical insulin resistance, concomitant with higher circulating insulin, is implicated in the pathogenesis of polycystic ovary syndrome (PCOS) in which there is abnormal lipid metabolism with changes in ovarian hormone production. SREBPs are key transcriptional regulators of lipid biosynthesis and therefore may be involved in changes occurring in PCOS. We have examined whether insulin and gonadotrophin regulate SREBPs.Local ethical approval was granted ...

ContextE47 is a transcription factor mostly known for its role in B and T cell lineage commitment. Recently E47 was identified as a modulator of glucocorticoid receptor target genes, its loss protecting mice from metabolic adverse effects of glucocorticoids. Patients with Cushing’s syndrome (CS) suffer from an endogenous glucocorticoid excess due to tumour formation associated with a variety of metabolic comorbidities seriously affecting patients&#1...

BackgroundPrimary aldosteronism (PA) affects 5-20% of all patients with hypertension, and is likely the most common treatable cause of hypertension. Patients with PA have higher risk of cardiovascular disease, atrial fibrillation and stroke. We aimed to estimate the prevalence of PA in patients with recent stroke.MethodsWe prospectively recruited 300 patients who were admitted to the acute stroke unit of a si...

Background: Well-differentiated neuroendocrine tumors (WD-NET) have a relatively low tumor mutation burden and do not commonly express the programmed death ligand 1 (PD-L1), characteristics which may limit the anti-tumor activity of PD-L1 inhibitors in this disease. Response rate to single agent immune checkpoint inhibitors (ICI) for patients with G1-3 NET is <15%. The intensity of anti-tumor immune response may be enhanced by addition of liver-directed therapy (LDT), such...

Background: Pancreatic neuroendocrine neoplasms (panNENs) are heterogeneous, with grade (G) defined by Ki67 proliferation index (<3% G1, 3-20% G2, >20% G3) or mitotic rate. The G3 NEN subgroup is further divided into well differentiated neuroendocrine tumors (NETs) and poorly differentiated neuroendocrine carcinomas (NEC). Grade progression can occur over time, with low-to-high grade progression (L-to-H; G1/2 to G3) the most clinically relevant form. It is associated w...