Endocrine Abstracts

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...

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...

The aim of this study was to evaluate in a long follow-up time patients with acromegaly successfully treated by transphenoidal surgery (TNS) in order to establish the recurrence rate and the need of subsequent follow up.Methods: We retrospectively analyzed data of 283 acromegalic patients (168 females, mean age: 44.2 ±12.9 years) who underwent TNS for a GH secreting pituitary adenoma between 1980 and 2020, on regular follow-up at two Pituitary Units...

Background: COVID-19 represents a global health emergency and infected patients with chronic diseases often present a severe impairment. Adrenal insufficiency (AI) is supposed to be associated with an increased risk of infections which could trigger adrenal crisis. Our primary aim was to evaluate the incidence of COVID-19 symptoms and complications in AI patients.Materials and methods: We conducted a retrospective case-control study, in 279 patients with...

Over the last two years, COVID-19 outbreak and lockdown have exerted a remarkable psychological burden in the general population. Such an impact is supposed to be even worse in acromegaly, known to induce a severe psychological impairment due to its somatic disfigurements and systemic comorbidities. The current observational study aimed at investigating the impact of COVID-19 outbreak and lockdown on psychological health in acromegalic patients as compared to non-acromegalic h...