Endocrine Abstracts

Introduction: Streptozotocin (SZ) is an active drug for the treatment of advanced adrenocortical carcinoma (ACC) in a minority of patients with an objective response rate of <10%. It has been reported that expression of glucose transporter-2 (GLUT-2) is essential for SZ to enter tumor cells and that high activity of O-6-methylguanine-DNA methyltransferase (MGMT) counteracts the alkylating effect of SZ. Therefore, we aimed to clarify the role of GLUT-2 and MGMT in the respo...

Background: Patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require lifelong glucocorticoid replacement therapy, including stress dose adjustment to prevent life-threatening adrenal crises (AC). Previous studies indicate a high incidence of inadequate stress dose adjustment and AC in patients with CAH. The aim of this study was to prospectively assess AC incidence, frequency and details of stress dose adjustment as well as knowledge of the d...

Background: Adrenal crisis (AC) is a life-threatening complication in patients with congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency (21-OHD). AC was defined as an acute state of health impairment which required i.v. glucocorticoid administration and hospital admission. No data on AC over life-time in 21-OHD is available.Study design: In a retrospective study AC was studied following two approaches: a) questionnaire-based: 122 ad...

Background: The water deprivation test (WDT) with direct or indirect measurement of plasma vasopressin (AVP) is the method of choice for the differential diagnosis of the polydipsia–polyuria syndrome. In theory, direct measurement of AVP is highly attractive but hampered by technical difficulties.Objective: To evaluate the utility of copeptin, a surrogate of AVP secretion, in the diagnostic work-up of the polyuria–polydipsia syndrome, and to co...

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders. About 5–8% of cases are caused by the deficiency of steroid 11β-hydroxylase (CYP11B1) due to mutations in CYP11B1 gene. CYP11B1-inactivating mutations can be found without particular hot-spot spread over the entire gene. A good phenotype-genotype correlation exists for the patients suffering from 11β-hydroxylase deficiency (11OHD). The prediction of diseas...

Background: Non-alcoholic fatty liver disease (NAFLD) is recognized as common liver disorder that represents the hepatic manifestation of the metabolic syndrome including visceral obesity, type 2 diabetes, insulin resistance and hyperlipidemia. Non-alcoholic steatohepatitis (NASH) is the progressive form of liver injury with the risk for progressive fibrosis, cirrhosis and end-stage liver disease. The pathophysiology that leads to NAFLD and NASH is not well understood. We hypo...

Background: Non-alcoholic fatty liver disease (NAFLD) is recognized as common liver disorder that represents the hepatic manifestation of the metabolic syndrome including visceral obesity, type 2 diabetes, insulin resistance and hyperlipidemia. Non-alcoholic steatohepatitis (NASH) is the progressive form of liver injury with the risk for progressive fibrosis, cirrhosis and end-stage liver disease. The pathophysiology that leads to NAFLD and NASH is not well understood. We hypo...

Background: The ESE-ENSAT guidelines emphasize the role of local therapies and suggest radiotherapy (RT) as an individualized treatment in patients with advanced ACC. However, the evidence for this recommendation is very low.Objectives: The aim of this study was to retrospectively investigate the efficacy and tolerance of RT in advanced ACC.Methods: We screened all patients in five European reference centers for ACC since 2000 for ...

Background: There have been conflicting reports on fertility, reproduction rates and pregnancy outcomes in women with congenital adrenal hyperplasia (CAH). Identification of potential modifiable influential factors of pregnancy outcomes in these women has been hampered in the past by either small sample sizes or data derived from epidemiological samples.Methods: Retrospective multi-center study including a total number of 72 women with CAH (n=34...

Background: Adrenal masses are discovered in 5% of abdominal imaging scans. Work-up aims at exclusion of malignancy and hormone excess. However, estimates of these risks derive from retrospective studies only, mostly small and with significant selection bias.Methods: Prospective multi-centre study (2011–2016) in 14 centres (11 countries) of the European Network for the Study of Adrenal Tumours (ENSAT) with prospective consecutive enrolment of patien...