Endocrine Abstracts

Pituitary neuroendocrine tumors (PitNETs) are mostly benign lesions originating from the anterior pituitary and represent 10–15% of all the intracranial neoplasms. PitNETscan be classified in non-secretory, clinically non-functioning pituitary adenomas (NFPAs), and secretory, comprising prolactin (PRL), growth hormone (GH) and adrenocoticotropic hormone (ACTH) PitNETs. Surgical resectionis the first line treatment for PitNETs, whereas chemotherapy and radiotherapy are pr...

Introduction: Patients with Cushing’s syndrome might present a variety of brain alterations. There is however little evidence from MRI studies demonstrating atrophy of either frontal or medial temporal brain regions.Aims: To study cortical alterations (decreased cortical thickness) on MRI in patients with Cushing’s syndrome (CS), as compared to controls (C), and long-standing major depressive disorder (MDD).Material and m...

It is important to know the prevalence of common diseases in every country in order to guide us to take decisions regarding public health benefits in screening, in Mexico we do not have information regarding thyroid abnormalities.Methods: We designed a cross-sectional study in the city of Queretaro (Mexico) in order to know the prevalence of altered thyroid function tests in our population, since we do not have any previous study. We calculated the sampl...

Introduction: Magmas encodes for an integral constituent of the TIM23 translocase complex located in the mitochondrial inner membrane that drives proteins from the intermembrane space into the mitochondrial matrix by functionally interacting with Tim14. We previously demonstrated that Magmas silencing is able to sensitize ACTH-secreting mouse pituitary adenoma cells to pro-apoptotic stimuli, reduce DNA synthesis, accumulate cells in G0/G1 phase with concomitant decrease in S p...

Introduction: Germline inactivating ARMC5 (Armadillo repeat containing 5) mutations are responsible for Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH). ARMC5 presents the characteristics of a tumor suppressor gene. Mutations are observed in more than 85% of patients with a clear familial presentation and 20 to 25% of apparently sporadic cases. Genetic alterations are spread all over ARMC5 coding sequence and more than two-third of them ar...

Background: Primary hyperaldosteronism (PHA) typically manifests as resistant hypertension, hypokalaemia and metabolic alkalosis. We present a case of PHA who subsequently exposed type 4 renal tubular acidosis (RTA) after surgical intervention.Case history: A 62 year old man underwent investigation for chronic resistant hypertension, which had failed to respond to titration of three antihypertensive agents including Perindopril, Amlodipine and Doxazosin....

Liver autophagy, as assessed by accumulation of LC3-II and p62 proteins, is positively correlated with the severity of nonalcoholic steatohepatitis (NASH) in humans. Since growth hormone (GH) is negatively associated with liver steatosis and NASH development, and our laboratory has reported that steatosis and NASH develops in a mouse model of adult-onset, hepatocyte-specific GH-Receptor knockdown (aHepGHRkd), we sought to determine if GH directly regulates the hepatocyte autop...

Background: Despite a wealth of gene-discovery studies identifying recurrently mutated genes in hereditary and sporadic endocrine tumours, the molecular mechanisms underpinning tumourigenesis frequently remain ill-defined, in part reflecting a lack of physiologically relevant model systems to investigate gene function. Here, using pancreatic neuroendocrine tumours as an example, we explored the utility of human induced pluripotent stem cell (iPSCs) and CRISPR/Cas9 gene-editing...

Worldwide, ˜300,000 new cases of differentiated thyroid cancer are reported per annum and thyroid cancer now represents the most rapidly increasing cancer in the US and in the UK. In general terms, outcome is good (10-year survival >90%). However, up to 25% of patients develop local or regional recurrences, and have a significantly reduced life expectancy. We hypothesise those thyroid tumours which subsequently recur display a distinct pattern of driver ...

Background: Despite a wealth of gene-discovery studies identifying recurrently mutated genes in hereditary and sporadic endocrine tumours, the molecular mechanisms underpinning tumourigenesis frequently remain ill-defined, in part reflecting a lack of physiologically relevant model systems to investigate gene function. Here, using pancreatic neuroendocrine tumours as an example, we explored the utility of human induced pluripotent stem cell (iPSCs) and CRISPR/Cas9 gene-editing...