Endocrine Abstracts

Introduction: Since DI was reported to be associated to increase mortality, the aim of this study is to evaluate the presence of autonomic dysfunction (AD) in patients with DI.Methods: We enrolled 12 patients (six females) with central idiopathic DI and 12 controls, matched for age, sex and common cardiovascular risk factors, who were evaluated using the tilt, lying-to-standing, hand grip, deep breath, Valsalva maneuver and Stroop tests.<p class="abs...

Introduction: The diagnosis of Cushing’s syndrome (CS) might be challenging especially in ACTH-dependent CS when it comes to detect the origin of ACTH secretion.Materials and methods: We retrospectively recorded data about 170 patients with ACTH-dependent CS (149 CD, 21 EAS) referring to two Endocrinology Units. We focused especially on the performance of 3 dynamic tests: the dexamethasone 8 mg overnight challenging (HDDST), the CRH and the desmopre...

Osteoprotegerin (OPG) has been identified as a decoy receptor that inhibits osteoclast differentiation and recently as a paracrine regulator of vascular calcification. OPG is suppressed by glucocorticoid administration. In this study, we evaluated OPG and bone metabolism in Cushing’s syndrome (CS) before and after surgical treatment. Twenty-nine patients with CS (26 women and 3 men, mean age: 40.7–2.8 years) and 27 age and sex-matched controls have been studied for b...

Glucose-dependent insulinotropic polypeptide (GIP) receptor is a member of the G protein-coupled receptors family. According to its incretin properties, GIPR is expressed in tissues such as pancreas, stomach and adipose tissue. However GIPR expression pattern appears to be broader, as it was detected in other tissues such as heart, lung and the central nervous system, thus suggesting either novel ligands for GIPR or novel actions for GIP. Moreover, in some patients with food-d...

Cushing’s syndrome (CS) is associated with hypercoagulable state, mainly dependent on corticosteroid-induced increase of von Willebrand factor (VWF) levels, even though this does not affects all patients. In normals plasma VWF levels are genetically determined by ABO blood groups and polymorphisms G/C −1793, C/T −1234, A/G −1185, G/A −1050 of VWF promoter. These SNPs segregate as haplotype 1 (G/C/A/G) and haplotype 2 (C/T/G/A) with genotype 1/1 (GG...

Adrenocortical carcinoma (AC) is a rare neoplasm with poor prognosis. Medical treatment of AC is actually based on the use of op’DDD (mitotane) with or without traditional chemotherapeutic agents. Only very few information are available about the effectiveness of somatostatin analogs in AC. In human adrenal gland the expression of all five somatostatin receptor (SSTR) subtypes was previously demonstrated. A differential expression was shown in adrenal adenomas and carcino...

In the diagnosis of Cushing’s disease (CD) desmopressin (dDAVP) stimulation test may be a convenient and more readily available alternative to CRH test; however the sensibility and specificity of ACTH response to dDAVP test has been reported in adult patients inferior to CRH test. In childhood patients with CD there are no data for the use of dDAVP test in this clinical setting. We studied 9 patients ranging in age from 11 to 19 years (7 females and 2 males) with a suspec...

Ectopic Cushing syndrome (EAS) is a rare condition characterized by ACTH-dependent hypercortisolism resistant to normal physiologic suppression by glucocorticoids. EAS is due to an extra-pituitary tumor producing bioactive molecules generated by post-translational cleavage of the proopiomelanocortin gene (POMC). EAS is associated with significant morbidity and mortality and although surgical resection of the primary ACTH-producing tumor remains the mainstay of therapy, not all...

Background: Familial isolated pituitary adenomas (FIPA) is a rare inherited disorder accounting for about 2% of pituitary adenomas. Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of FIPA families and rarely in early onset sporadic pituitary adenomas. Among the AIP mutations reported so far, the R304X represents, after the Finnish founder mutation Q14X, the second most common one.Me...

Introduction: Available literature on series of patients affected by ectopic Cushing’s syndrome (ECS) deriving from neuroendocrine tumours (NETs) is relatively scarce. This is the first Italian multicentre study regarding clinicopathologic features, modalities of treatment, and survival of patients with NETs and ECS.Patients and methods: Retrospective analysis of data from patients with ECS from NETs collected in 14 centres between 1986 and 2014, ob...