Endocrine Abstracts

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...

Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to end-organ resistance to the action of PTH. The two main subtypes of PHP, PHP type Ia and Ib are caused by heterozygous loss-of-function mutations in GNAS exons 1–13, which encode Gsα, and by methylation defects in the imprinted GNAS cluster, respectively. Individuals affected with PHP-Ia typically show clinical abnormalities referred to as Albright hereditary osteo...

Somatostatin (SS) is a widely distributed polypeptide that exerts inhibitory effects on hormone secretion and cell proliferation by interacting with five different receptors (SST1-SST5), that display important differences in tissue distribution, coupling to second messengers, affinity for SS and intracellular trafficking. SS analogues currently used in the treatment of acromegaly inhibit hormone secretion and cell proliferation by binding to SST2 and 5. Beta-arrestins have bee...

Objective: Rathke’s Cleft Cyst (RCC) is a common incidental type of sellar lesion, and, depending on size, may cause local mass effects with visual impairment, hypopituitarism, and headaches. In this study, we sought to define the natural history of RCC.Methods: We performed a retrospective study of patients diagnosed with RCC between 2000 and 2016 at Stanford University Hospital, US, and Ospedale Maggiore Policlinico di Milano, Italy. Aim of the st...

Objective: The current cut-offs to diagnose adrenal insufficiency (AI) have been established using outdated immunoassays. More modern methods have demonstrated less cross-reactivity with other steroids. The aim of our study was to evaluate the correlation between the cortisol assay Roche Cortisol I (R1), the newly available Roche Cortisol II (R2) and liquid chromatography tandem mass spectrometry (LC-MS/MS), the gold standard procedure for the measurement of steroids.<p cl...

Aneurysmal bone cysts (ABCs) are rare pseudotumoral bone lesions with potential aggressive behavior due to the extensive destruction of surrounding bone. Besides surgery, denosumab has been investigated as a treatment for benign fibro-osseous lesions. As for ABCs, pediatric experience is limited, reporting mainly beneficial effects on lesions growth and associated pain. Some reports included well known side effects associated with denosumab, such as the rebound hypercalcemia a...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating from parafollicular thyroid C cells that produce calcitonin, accounting 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. Signaling pathways involved in cell proliferation, survival and motility are triggered by constitutively active RET, but the mechanisms underlying mali...

Background: Serum inflammation-based scores can predict clinical outcomes in several cancer types, including adrenocortical carcinoma (ACC). They may also be altered in benign adrenocortical tumours and correlate with cortisol excess. It is unclear whether the inflammation-based score alterations in ACC reflects malignancy, steroid excess, or both.Methods: A total of 490 patients were included (429 [87.6%] with adrenocortical adenoma [ACA] and 61 [12.4%]...

Background: Acromegaly is a chronic disease which causes multiple impairments that negatively affect daily life. Telemedicine is proving to be useful in diagnosing and treating these disabling aspects, including psycho-physical comorbidities, which are difficult to investigate during conventional visits.Aim of the study: To improve the management of acromegaly, both in cured and active disease, through the use of telemedicine technologies in addition to ...