Endocrine Abstracts

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...

Aim: The aim of this retrospective study was to assess the efficacy of different doses of rituximab (RTX) in patients with active moderate-severe Graves’ Orbitopathy (GO).Methods: Overall 40 patients, 5 M/35 F; mean age (± S.D.) 58±11 years were treated with RTX; 21 were smokers. The patients received the following treatment: 14 patients (group 1) a single 100 mg dose; 15 patients (group 2) a single 500 mg dose and 11 Patien...

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...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor that originates from parafollicular thyroid C cells and accounts for 5% -10% of thyroid cancers. In all inherited cases of MTC, and in about 40% of sporadic cases, activating mutations of the receptor tyrosine kinase proto-oncogene RET are found. Constitutively active RET triggers signaling pathways involved in cell proliferation, survival and motility, but the mechanisms underlying malignant transformation of C-...

Objective: Several studies reported that a long-time therapy with somatostatin analogs (SSTa) in acromegaly could induce persistent remission event after drug withdrawal. The aim of this study was to evaluate GH/IGF-I secretion after SSTa discontinuation in a series of acromegalic patients.Materials and methods: Data of 21 patients regularly referred to our Centre and previously included in a multicentre study, have been updated at the last available fol...

Background: Subclinical hypothyroidism (SH) is a frequent clinical condition with a prevalence of 3–15% in general population. It is defined by elevated TSH levels with normal thyroid hormones [free thyroxine (FT4) and free triiodothyronine (FT3)]. Similar to prolactin, high TSH levels may be caused by macroTSH, a large molecular sized TSH with a low bioactivity. The aim of the study was to assess the prevalence of macroTSH in patients with subclinical hypothyroidism....