Endocrine Abstracts

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...

Background: Patients with Cushing’s Syndrome (CS) have a high risk of venous thromboembolism (VTE) related to a hypercoagulable state. Previous studies showed increased levels of procoagulant factors but also an elevation of some of the anticoagulants factors and fibrinolytic enzymes. Once patients achieve disease remission, there is a significant decrease of some procoagulant factors but if these alterations are completely reversible is still unclear. Compared to tradit...

Introduction: The diagnosis of acromegaly is confirmed in the presence of high IGF-1 levels and inadequate suppression of growth hormone (GH) after glucose load. According to guidelines, a GH nadir (GHn)>0.4 ng/ml is considered diagnostic with ultrasensitive assays. However, some acromegalic patients with lower GHn, also called ‘micromegalic’, are reported, but a systematic collection of their clinical features is unavailable.Aim of the s...

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...

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. Heterozygous loss of function mutations in the gene encoding the alpha-subunit of Gs (GNAS) inherited from the mother lead to PHP type Ia. PHP type Ia (PHP-Ia) is a disease in which the physical features (short stature, obesity, round face, brachydactyly and subcutaneous ossifications) that constitute Albri...

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...