Endocrine Abstracts

Epigenetic deregulation is emerging as a component of the parathyroid tumorigenesis. We identified a long non-coding RNA (LNCRNA) signature clearly distinguishing parathyroid adenomas (PAds) and carcinomas from normal glands. Among the deregulated LncRNAS, HAR1B was upregulated in PAds harboring the common chromosome 11q loss of heterozygosity (Chr11q-LOH; n=10) compared with PAds harboring normal chromosome 11 haplotype (Chr11q-WT; n=12; P&...

We previously described aberrant expression of microRNAs belonging to the chromosome 19 cluster (C19MC) and the close miR-371-373 cluster in two-thirds of parathyroid carcinomas (PCas). Therefore, we investigated the involvement of the miR-371-373 cluster in parathyroid tumours, where miR-372 was the most consistently upregulated. miR-372 is known to be highly expressed in human embryonic stem cells and definitely downregulated upon differentiation. Moreover, miR-372 promotes ...

Though there is no evidence of a constitutive nuclear accumulation of β-catenin, the Wnt/β-catenin pathway might be deregulated in parathyroid tumours. We investigated unphosphorylated active β-catenin distribution by western blot in 16 typical parathyroid adenomas (PAds): β-catenin accumulation in the nuclear protein fractions varied from the levels detected in Caco-2 cells with constitutively active Wnt signalling (three PAds) to the levels measured in HE...

Introduction: The management of patients with adrenal incidentaloma (AI) and possible subclinical hypercortisolism (SH) is debated. This randomized study was aimed to evaluate the effects of adrenalectomy on arterial hypertension (AH).Methods: We consecutively evaluated 590 AI patients (referred to 3 Italian Centres between 06/2016 and 12/2019). Among these, 134 patients showed a possible SH (i.e. 1 mg DST between 1.8 and 5 µg/dl). Based on the excl...

PKA regulatory subunit 2B (R2B) is the most expressed in mouse adipose tissue, where it plays an important role in regulating energy balance. We previously demonstrated that R2B is the most abundant R subunit in human adult subcutaneous and visceral adipose tissues. We further showed that R2B expression and PKA activation are reduced in adipose tissues from obese as compared to non-obese subjects. Normal adipose tissue development and increases in fat mass associated with obes...

Androgens, by signaling through the androgen receptor (AR), mediate a wide range of male developmental processes. Complete androgen insensitivity syndrome (CAIS), a X-linked disorder caused by AR gene mutations, represents an in vivo model to study the role of androgens in sexual development. Here, we reported a case with CAIS at 20 weeks of gestational age harbouring a novel AR missense mutation (D767V), which was predicted to prevent androgen binding and...

Primary hyperparathyroidism (PHPT) is associated with increased risk of kidney stones. Hypercalciuria and urine oxalate excretion are considered risk factors for urolithiasis in PHPT stone-formers. Recently, the anion-exchanger SLC26A6 has been involved in the oxalate metabolism. Slc26a6-null mice showed hyperoxalemia, hyperoxaluria resulting in dramatic calcium oxalate urolithiasis. We tested the hypothesis that urine oxalate excretion in PHPT patients might be modulat...

A peculiar characteristic of parathyroid tissue is the ability to spontaneously induce angiogenesis, to proliferate and to secrete PTH when autotransplanted in patients undergoing total parathyroidectomy. Since stem/progenitor cells have been involved in the process of tissue regeneration, we searched for putative parathyroid progenitors from human normal and tumoral parathyroids. By immunohistochemistry, FACS analysis and cell culture we identified parathyroid cells positive ...

IntroductionThe management of patients with adrenal incidentaloma (AI) and mild autonomous cortisol secretion (MACS) is debated. This randomized study aimed to evaluate the effects of adrenalectomy on arterial hypertension (AH), glucose and lipid metabolism.MethodsWe consecutively evaluated 626 AI patients (referred to 3 Italian Centers between 06/2016 and 02/2020). According to the inclusion criteria, we enr...

IntroductionIrisin is a molecule secreted from skeletal muscle and contributes to maintenance of metabolic homeostasis leading to increased energy expenditure and reducing the risk of obesity and diabetes. Literature data suggest that patients with Cushing disease have lower irisin values than controls and remission of hypercortisolism increases these values. Moreover, other plasma inflammation markers implicated in the pathogenesis of atherosclerosis, i...