Endocrine Abstracts

Adrenocortical tumors are common, occuring in 5-7% of the population. Adrenocortical carcinoma (ACC) is rare (0.7-2/million/year) and it has a poor prognosis with a five-year survival of less than 30% in advanced stages. The histological differentiation of benign and malignant adrenocortical tumors is challenging.Objectives: To explore the diagnostic utility of multiple microRNAs in various combinations as markers of adrenocortical malignancy by using ar...

Background: Midnight salivary cortisol (SalC2400) measurement has been recently suggested as one of the first-line screening tests for hypercortisolism.Aims: In our present study, we evaluated the clinical utility of the salivary cortisol (SalC) measurement in the diagnosis of both overt and subclinical Cushing’s syndrome.Patients and methods: Patients with overt Cushing’s syndrome (n=23, group A) and those with su...

Introduction: The hypothalamic–pituitary–adrenal axis setpoint and the glucocorticoid sensitivity in various tissues are at least partly genetically determined. The glucocorticoid receptor (GR) gene polymorphisms may have an impact on the development and/or the variability of clinical manifestations of endogenous hypercortisolism, however their role has not been investigated in patients with endogenous hypercortisolism.Methods: We investigated ...

Objective: Genetic variation in the glucocorticoid receptor (GR) gene may be related to the clinical heterogenety and severity of the Cushing’s syndrome. BclI, N363S and ER22/23EK polymorphisms are the three most investigated polymorphisms within the GR gene, however, the importance and magnitude of their effect in hypercortisolemic states are unclear. The BclI and the N363S variants are associated with increased, while the ER22/23EK variant is associated with reduced glu...

Objevtives: Maternal hyperandrogenism occurs rarely during pregnancy as the consequense of maternal ovarian or adrenal disorders, or placental aromatase deficiency.Case: A 33-year-old pregnant women was referred because of high serum testosterone (240 ng/dl; normal, 20–60 ng/dl) measured at the 7th week of pregnancy. At presentation she had symptoms of moderate hyperandrogenism, which slightly increased until delivery. Abdominal and pelvic ultrasoun...

Objectives: Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium-sensing receptor (CaSR). We report the case of a now 11 year-old boy with NSHPT. We characterize a novel inactivating mutation with the results of some functional analyses.Case: In the neonatal age the patient presented the clinical syndrome of NSHPT. At the age of 6 years, persisting hypercalcemia without clinical symptoms was documented, and th...

The European Registry on Cushing’s Syndrome (ERCUSYN) is designed to collect prospective and follow-up data on patients with Cushing’s syndrome (CS) and currently (Sep 2013) includes 1006 patients (804 F, 202 M; mean age (+S.D.) 44.7±13.3 years) from 57 centers in 28 countries.Six hundred and sixty one (66%) had pituitary-dependent CS (PIT-CS), 242 (24%) adrenal-dependent CS (ADR-CS), and 103 (10%) CS from other etiologies, ...

Introduction: The most important feature of bone metabolism in patients with Cushing’s syndrome is the uncoupling of osteoblast and osteoclast activity resulting in suppressed bone formation.Objective: The aim of the present study was to investigate the altered bone turnover in patients with various forms of Cushing’s syndrome in the active phase of the disease as well as after successful normalization of cortisol overproduction.<p class="a...

Introduction: Combined pituitary hormone deficiency (CPHD) may be associated with mutations of genes coding for pituitary transcription factors, of which the PROP1 and Pit1, gene mutations have been most extensively studied. However, there are controversial data about the prevalence of these gene mutations in non-acquired childhood-onset CPHD patients.Objectives: To examine the prevalence and spectrum of PROP1 and Pit1 gene mutations in CPHD patients a m...