Endocrine Abstracts

Primary hyperparathyroidism (PHPT) may occur sporadically or within MEN syndromes. It is classically thought that PHPT in MEN occurs at earlier ages than sporadic PHPT without significant differences in clinical and biochemical presentation. The aim of the study was to compare clinical and biochemical parameters between sporadic PHPT and MEN1 patients. The study included 41 genetically diagnosed MEN1 patients (14M, 27F) and 88 sporadic PHPT patients (24M, 64F) matched for age ...

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...

Introduction: In type 1 multiple endocrine neoplasia (MEN1), primary hyperparathyroidism (PHPT) is a challenging problem due to the high post-surgery recurrence rate. Cinacalcet is a calcimimetic agent which showed to be effective in patients in whom surgery is contraindicated or refused. In this study we assessed the efficacy and the safeness of cinacalcet in MEN1 patients, in comparison with patients with sporadic PHPT (sPHPT). Moreover, the influence of Arg990Gly CASR polym...

Primary hyperparathyroidism (PHPT) negatively affects renal function. It is known that chronic kidney disease is a predictor of cardiometabolic diseases. Cystatin C (cystC), an alternative measure of renal function, has been associated with adverse cardiovascular events and cardiometabolic risk factors. This study was aimed to evaluate serum cystC, its relationships with PTH and cardiometabolic risk in patients with PHPT.The following parameters were mea...

Introduction: Myotonic dystrophy (DM) type 1 and 2 are multisystemic autosomal dominant disorders with visceral obesity, insulin resistance and hypogonadism. The prevalence of metabolic risk factors for coronary artery disease (CAD) in DM is not well defined, particularly in patients affected by DM2, a milder and clinical challenging condition.Methods: We assessed the frequency of CAD risk factors in 31 male DM1 (44±11 years) and 13 male DM2 (54&#17...

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...