Endocrine Abstracts

We report on the clinical and biochemical outcomes in a 20-year-old male suffering from active craniofacial monostotic fibrous dysplasia (MFD) treated with the RANK-L inhibitor, Denosumab, following unsatisfactory responses to prior long-term bisphosphonates therapy. The patient had been treated over 9 years with pamidronate (cumulative dose of 81 mg), but experienced only mild reductions in pain scores. Following initiation of Denosumab 60 mg subcutaneously, bone pain and bon...

Reduced health-related quality of life (HRQoL) and impairment in neurocognitive functions are a possible complaint in patients with pituitary adenoma. Psychiatric comorbidities in Cushing’s disease are well known. However recent studies showed HRQoL reduction and psychiatric symptoms in patients with pituitary disease with or without hormonal excess. Aim of this study is to analyse HRQoL, psychiatric symptoms and neurocognitive functions in patients with pituitary adenoma...

cAMP is an ubiquitous second messenger that is implicated in the regulation of a wide variety of cell functions, including cell proliferation that is differently affected depending on the cell type. Although the effects exerted by cAMP were initially attributed to PKA activation, two exchange proteins directly activated by cAMP (Epac1/2) have been identified as cAMP targets able to mediate several cAMP effects. Aim of this study was to investigate the effect of cAMP on neuroen...

Introduction: Non-functioning pituitary adenomas (NFPA) accounts for about 40% of all pituitary tumors. One or more anteropituitary deficiencies are present at diagnosis in 60–80% of NFPA. Hypopituitarism classically appears with the following order: GH→FSH/LH→TSH→ACTH. Aim of the study was to evaluate the incidence and the order of appearance of pituitary deficiencies in patients with NFPA.Materials and methods: We retrospectively...

Treatment options for neuroendocrine tumors (NET), including everolimus, are rarely curative, as NETs frequently show resistance to medical therapy. In fact, the use of everolimus, an mTOR inhibitor, is limited by the development of resistance, probably due to the activation of Akt signalling. Metformin seems to have anticancer effects in neuroendocrine tumors (NETs). A recent retrospective study found longer progression-free-survival in diabetic pancreatic neuroendocrine tumo...

Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, skeletal muscle and deep connective tissues. Initially HO occurs during infancy as osteoma cutis, then extends progressively into deep connective tissues during childhood. Most cases of POH are caused by paternally inherited mutations of GNAS gene. Maternal mutations as well as epigentic defec...

Somatostatin (SS) binds to different SS receptors (SSTR1–5) and SS analogues are the first choice medical treatment of GH-secreting pituitary adenomas (GH-omas). A subset of patients is resistant to SS, although the mechanisms involved in SS resistance are not fully understood. Recent studies identified specific protein–protein interactions as determinant in the regulation of receptor anchoring and signalling. Filamin A (FLNA) is a widely expressed cytoskeleton prote...

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...

Context: Most of the clinical data on safety profile of desmopressin (DDAVP), i.e. an effective treatment of both polyuric conditions and bleeding disorders, originates from studies on tailoring of drug treatment, whereas few reports describe severe side effects secondary to drug–drug interaction.Objective: To describe a case of severe hyponatremia complicated with seizure and coma due to the intake of non steroidal anti-inflammatory drugs (NSAIDs) ...