Endocrine Abstracts

Inactivating PTH/PTHrP signaling disorders (iPPSDs, historically named pseudohypoparathyroidism (PHP)) are primarily characterized by end-organ resistance to parathormone (PTH), which leads to hypocalcemia, hyperphosphatemia and elevated PTH levels. The extent to which bone is responsive to PTH in these patients remains controversial. Until now, variable bone phenotypes have been associated to different subtypes of iPPSDs and increased concentrations of bone turnover markers (...

Background: Routine clinical use of arginine-vasopressin (AVP) is limited by its small molecular size and pre-analytical errors. In contrast, copeptin – a peptide of 39 amino acids co-secreted with arginine-vasopressin (AVP) - is a stable protein and its measurement represents a reliable measure of AVP concentration. The aim of this study was to analyze diagnostic role of copeptin in diagnosis of diabetes insipidus (DI) in patients treated for hypothalamic-pituitary disea...

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...

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...

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 ...

Background: Adrenal involvement in multiple endocrine neoplasia type 1 (MEN1) has been reported, its prevalence varying from 9 to 73%. The aim of this study was to characterize the adrenal phenotype and the prevalence and clinical significance of cortisol hypersecretion in a cohort of MEN1 patients.Methods: We retrospectively analyzed data of 36 adult patients with germline menin mutation (20 females; mean age 50±17.4 years) in regular follow-up at ou...

Introduction: Endogenous hypercortisolism is associated with cardio-metabolic complications and promotes the deposition of lipids in different tissues, particularly in the liver. However, the prevalence of hepatic steatosis in patients with Cushing’s syndrome (CS) has been little investigated so far and only one previous study reported a prevalence of 20% using computed tomography. The aim of the study is to evaluate the prevalence of hepatic steatosis and the organ-speci...

Background: Pituitary tumors are mostly sporadic, but in less than 5% of cases they can be associated to genetic syndromes, so harbouring germline mutations. Familial pituitary tumors are often more aggressive, so it’s important to detect them, for both a better early diagnosis and genetic counselling. Before the development of Next-Generation Sequencing (NGS), Sanger sequencing was the most widely used method of DNA sequencing. Therefore, DNA samples were analysed follo...

Introduction: Hypotonic hyponatremia is frequently observed after pituitary surgery. In this context, use of vasopressin V2-receptor antagonists is not standardized. The aim of this retrospective study is to explore the role of Tolvaptan in the management of acute hyponatraemia after pituitary surgery.Methods: We collected clinical, safety and efficacy data of patients treated with Tolvaptan after pituitary surgeryin our Centre between April 2011 and Feb...