Endocrine Abstracts

Objectives: A role of IgG4 in Graves’ disease (GD) has been proposed, although the available data are conflicting. In addition, an association between Graves’ orbitopathy (GO) and IgG4-related disease has been postulated, but no firm demonstration has been obtained. Thus, the aim of the present study was to investigate the role of IgG4 in GD.Methods: We performed a cross-sectional investigation in 351 consecutive patients (F=284, M=67; age 48.2...

Background: Iron overload disorders (IOD) are associated with a higher occurrence of unbalanced calcium (Ca)-phosphorous (P) metabolism, including hypoparathyroidism (HPT). However, data about prevalence and presentation of HPT in this setting are scanty. A Ca/P ratio <2.32 has been proposed to detect HPT in the general population.Aim: To characterize Ca-P homeostasis, particularly the prevalence of HPT, in a cohort of adult patients with IOD compare...

21 year old man presented to the emergency department with hypotensive shock. He had been seeing the GP with complains of poor appetite, intermittent vomiting, increased thirst and postural dizziness for the last 6 months. Previous medical history included tonsillitis, gastritis and learning difficulties. The working differential was severe gastroenteritis with hypovolemic shock, and so he was given immediate fluid resuscitation. He remained hypotensive, and so was given empir...

Introduction: Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by renal resistance to parathyroid hormone (PTH), presenting with hypocalcemia, hyperphosphatemia and elevated PTH levels. We describe a PHP patient who presented with clinically significant hypercalcemia.Case description: A 46-year-old woman with a prior history of hypocalcemia presented to the emergency department with new-onset hypercalcemia, renal failure and anemia....

Background: Cushing syndrome (CS) represents a challenging disease. The major difficulty is to distinguish between the two main etiologies of ACTH-dependent hypercortisolism. However, in rare cases, the concomitant presence of both an ACTH-dependent and a primary adrenal disease should be considered.Case report: We evaluated a 67-year-old woman for a severe ACTH-dependent CS (midnight serum cortisol 332 ng/ml; urinary free cortisol [UFC] 3000 mcg/day; co...

Pseudohypoparathyroidism type 1B (PHP-1B) is a rare, familial or sporadic, imprinting disorder due to the epigenetic dysregulation of the GNAS locus, whose main product is the α subunit of the stimulatory G protein (Gsα). Sporadic PHP-1B cases (spor-PHP-1B) display broad methylation abnormalities at multiple GNAS DMRs, but the underlying molecular mechanism is still unknown.Classically, PHP-1B patients show PTH and TSH resistance, but, in the p...

Metabolic Syndrome (MetS) is a cluster of clinical conditions, associated to an increased cardiovascular and metabolic risk, to hypogonadism and erectile dysfunction (ED). Lifestyle modification (including physical exercise, PhyEx) and metformin (MET) are well-known treatments for the condition. We established an animal model of MetS that recapitulates the human phenotype, including andrologic derangements.The aim of this study was to investigate in expe...

Background: Traumatic brain injury (TBI) is a major cause of disability and death, and a cause of neuroendocrine dysfunction. Partial or complete pituitary dysfunction is a frequent event occurring in 25–50% of subjects after a TBI as result from damage to either the pituitary or the hypothalamus. This large variability depends on the screening methods and on the difficulty to predict the effects of the trauma on pituitary. Growth hormone deficiency and gonadotropin defic...

Actions of the stress hormone, glucocorticoid (GC), are essential for the modulation of implicated biological processes such as synaptic transmission. In disease paradigms that feature a hormone hyper-secretion phenotype (e.g. neurocognitive disorders), the normalcy of receptor signaling is compromised.The pro-cognate role of Glucocorticoid receptor (GR) inhibition via hormone analogues bearing anti-glucocorticoid properties is well described. A key exam...

The emergence of prostate cancer and the progression of the disease are significantly driven by the androgen receptor (AR) in combination with other transcription factors. The evolution of aggressive disease requires tumours to become resistant to metabolic stress and subsequently therapeutic stress. Given the role of the prostate gland has a secretory organ characterised by high rates of protein synthesis particularly in AR-positive luminal epithelial cells there are inherent...