Endocrine Abstracts

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...

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...

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) ...

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...

The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1–13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward PTH and additional hormones, while PHP-Ib patients do not have AHO and hormone resistance is limited to PTH and TSH. Recently, methylation defects have been detected in 5 patients with PHP-Ia, indicating a m...

GH-secreting and non-functioning pituitary tumors are clinically distinct, usually benign but potentially locally aggressive lesions originating from the replication of a single mutated pituitary cell. As for the underlying genetic and epigenetic alterations, also the patterns of activation of specific signaling pathways as well as the prognostic molecular factors leading to local invasiveness are, to date, largely unknown. In this study, we used two-dimensional electrophoresi...