Endocrine Abstracts

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...

Pituitary tumors, are mostly benign, but may cause significant morbidity in affected patients, including visual and neurologic manifestations from mass-effect, or endocrine syndromes caused by hormone hypersecretion. Dopamine (DA) receptor DRD2 and somatostatin (SS) receptors (SSTRs) represent the main targets of pharmacological treatment of pituitary tumors since they mediate inhibitory effects on both hormone secretion and cell proliferation, and their expression is retained...

According to the WHO classification and to clinical practice most pituitary tumors are benign, although invasion and aggressive behavior, as well as resistance to somatostatin/dopamine (SS/DA) analogs, occur in 25 – 50% of cases. In particular, genetic forms of acrogigantism (X-linked acrogigantism - X-LAG) are characterized by a very precocious and resistant phenotype associated with microduplications in the Xq26.3 region involving the GPR101 gene. The GPR101 gene encod...

Pseudohypoparathyroidism type 1 A (PHP-1A) is a rare genetic disorder characterized by hypocalcemia, hyperphosfatemia, multi hormones resistance (PTH, TSH, Calcitonin, GH) associated with Albright hereditary osteodystrophy (AHO) features. The disease is caused by GNAS haploinsufficiency due to inherited inactivating mutation of GNAS-gene that codes for the stimulatory alfa subunit of G protein. A positive genotype-phenotype correlation was recently hypothesized. The purpose of...

Neurosurgery is the treatment of choice of non-functioning pituitary tumors (NFPAs), but its success is strongly affected by local invasion. Medical therapy is still under debate, although the use of cabergoline results in tumor shrinkage in a subset of patients. We recently demonstrated that dopamine receptor DRD2 agonist BIM53097 exerts cytostatic and cytotoxic effects in cultured cells from NFPAs, but no data are present in literature about DRD2 mediated effects on pituitar...

Background: Patients with Klinefelter’s syndrome (KS) present a high prevalence of osteopenia, osteoporosis and fragility fractures. Several factors may contribute to skeletal fragility, e.g. hypogonadism, derangements in vitamin D metabolism, reduced testicular secretion of Insulin-like Factor 3. However, phosphate metabolism has never been investigated.Methods: A retrospective analysis was conducted to investigate prevalence and characteristics of...

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...

Introduction: Glucagon stimulation test is one of the recommended growth hormone provocation tests for diagnosing growth hormone deficiency in children. In adult patients, recent data showed that glucagon administration is able to stimulate the release of copeptin, the stable C-terminal glycopeptide of the AVP prohormone whose evaluation during hypertonic saline infusion represents the gold standard for the differential diagnosis of polyuria/polydipsia. However, similar data o...

Background: Low bone mineral density (BMD) and reduced sexual satisfaction have been reported in complete androgen insensitivity syndrome (CAIS). Nevertheless, conclusive data on the prevalence and on the optimal management of these conditions are still lacking.Aims: To assess bone and sexual health in adult women with CAIS with and without gonadectomy.Methods: Single-centre, prospective study of 27 adult CAIS (age 35.2±8.7 ye...