Endocrine Abstracts

Introduction: The effects of testosterone on coagulation have not yet been clarified. In particular, it is still controversial whether male hypogonadism, or testosterone replacement therapy (TRT), may slightly increase the risk of venous thromboembolism, in particular during the first months of therapy. This study aimed to assess the hemostatic balance in hypogonadal men before and after short-term TRT, compared to healthy controls.Methods: Thrombin gene...

Background: Standard treatment for advanced adrenocortical carcinoma (ACC) is mitotane in monotherapy or combined with etoposide, doxorubicin and cisplatin (EDP), yet biomarkers predictive of treatment response are lacking. Inflammation-based scores were proposed as predictors for gemcitabine+capecitabine efficacy, used as second-line in progressive ACC. We investigated the role of inflammation-based scores in predicting response to first-line treatment in advanced ACC.<p ...

Since the first description of inactivating PTH/PTHrP signaling disorders (iPPSDs, historically named pseudohypoparathyroidism (PHP)) a remarkable clinical variability was observed, especially in clinical presentation, which seems to be age-dependent. The main clinical features, including PTH resistance, brachydactyly and short stature, develop during mid and late childhood, whilst minor clinical features such as a round face, rapid weight gain and subclinical hypothyroidism a...

Background: Treatment for advanced adrenocortical carcinoma (ACC) consists of mitotane alone or combined with etoposide, doxorubicin and cisplatin (EDP), yet their efficacy is limited and burdened with significant toxicity. Moreover, markers of response are lacking. Inflammation-based scores have been proposed as prognostic factors in several malignancies including ACC, and recently also as predictors of gemcitabine+capecitabine efficacy, second-line treatment in progressive d...

Inactivating PTH/PTHrP signaling disorders (iPPSDs, historically named pseudohypoparathyroidism (PHP)) are a group of rare disorders associated with resistance to parathormone (PTH) and other hormones due to impaired hormonal signaling via G protein coupled receptors. Hypercalcitoninemia has been reported in these patients, however very few reports are available. The aim of this study was to further investigate the prevalence and characteristics of hypercalcitoninemia in both ...

Background: In a previous study, we retrospectively analysed a group of patients with high insulin growth factor 1 (IGF1) but normal growth hormone (GH) suppression, identifying among them a subgroup of “micromegalic” patients presenting with clinical features of acromegaly and high rate of comorbidities. We therefore expanded our cohort of patients, extended the follow-up time and collected preliminary data on treatment response aiming to better characterize this co...

Adrenocortical carcinomas (ACCs) are rare endocrine tumors with poor prognosis. The insulin-like growth factor 2 (IGF2) is overexpressed in the great majority of ACC, and IGF2/IGF1R pathway acts as a proliferative autocrine loop, but to date IGF1R-targeted therapies have demonstrated a limited efficacy and the molecular mechanisms regulating this pathway are still unknown. The cytoskeleton acting-binding protein filamin A (FLNA), determinant in cancer progression and metastasi...

Cushing’s Disease (CD) is a rare condition characterized by an overproduction of ACTH by an ACTH-secreting pituitary tumor, resulting in excess of cortisol release by the adrenal glands. Pasireotide is the pituitary-targeted drug approved to treat adult patients. Its mechanism of action seems to rely on the preferential binding to the highly expressed somatostatin receptor in corticotroph tumors, SST5. Recently, somatic mutations in the deubiquitinase USP8 gene h...

The high expression of somatostatin receptor 2 (SST2) in growth hormone (GH)-secreting tumors represents the rationale for the clinical use of somatostatin analogs (SSAs) in acromegaly. However, about one third of patients displays resistance to SSAs and, to date, the responsible molecular mechanisms are still under investigation. Recently, the cytoskeletal protein Filamin A (FLNA) and the scaffolding proteins β-arrestins have emerged as key modulators of the responsivene...

Cushing’s disease (CD) is a rare disorder of chronic hypercortisolism due to an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Pasireotide, a multireceptor-targeted somatostatin (SST) analog with high binding affinity for the predominant SST receptor in human corticotroph tumors, SST5, has been recently approved to treat adult patients for whom surgery failed or does not represent a suitable option. However, to date, the molecular predictors of antisecretor...