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 (...

Since the first description of pseudohypoparathyroidism (PHP) a remarkable clinical variability was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities. PHP and related disorders vary in clinical presentation and disease severity, and clinical features usually deve...

Since the first description of inactivating PTH/PTHrP signaling disorders (iPPSDs, historically named pseudohypoparathyroidism (PHP)) a remarkable clinical variability was observed, especially in clinical presentation, which seems to be age-dependent. The main clinical features, including PTH resistance, brachydactyly and short stature, develop during mid and late childhood, whilst minor clinical features such as a round face, rapid weight gain and subclinical hypothyroidism a...

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: The serum calcium/phosphorus (Ca/P) ratio has been proposed to identify patients with primary hyperparathyroidism and chronic hypoparathyroidism (HPT) from healthy subjects. However, other disorders of the Ca-P metabolism might present similar biochemical profile of HPT, such as pseudohypoparathyroidism (PHP), for which the use of Ca/P can be useful. Aim: To test the performance of Ca/P ratio in the diagnosis of PHP in comparison to healthy...

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...