Endocrine Abstracts

Background: Classical congenital adrenal hyperplasia (CAH) is diagnosed mainly in newborns. While patients with salt wasting form cannot survive without timely diagnosis, those with simple virilizing or nonclassical may be diagnosed even in advanced age.Aim: To present clinical, biochemical, radiological and genetic characteristics of series of CAH patients diagnosed in advanced adulthood.Material and methods: Eight patients (F=5, ...

Backgroud: ACTH stimulation test is considered the basic diagnostic tool in the diagnosis of nonclassical congenital adrenal hyperplasia due to 21 hydroxylase deficiency (CAH). The cut off of 17OHP stimulation recommended for diagnosis is 10 ng/ml.Aim: To assess whether the recommended threshold of 17OHP after ACTH stimulation confirms nonclassical CAH among woman with hyperandrogenism and elevated basal 17OHP level.Material and Me...

Introduction: Low dose dexamethasone (DEX) androgen suppression test (LDDAST) is considered a tool to distinguish between the sources of androgen excess and to exclude/confirm autonomy of androgen overproduction.Aim: To assess whether 1 mg DST can be used instead of LDDAST.Materials and methods: Thirty-three consecutive women with hyperandrogenism age 18–38 years undergone overnight 1 mg DEX androgen suppression test and LDDAS...

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...

Objective: The diagnosis of Cushing’s syndrome may be challenging, especially in cases of patients with chronic kidney disease (CKD).Aim: The assessment of late night salivary cortisol concentration, serum and salivary concentration in overnight dexamethasone suppression test in patients with CKD stage III–V and a control group.Patients and methods: 37 patients mean age 66±12 (M=13) with CKD stage III–V...

Background: Adrenal masses are discovered in 5% of cross-sectional abdominal imaging scans. Work-up aims at exclusion of malignancy and hormone excess. However, estimates of these risks presently derive from retrospective studies only, mostly small and with significant selection bias.Methods: Prospective multi-centre study (2011–2016) in 21 centres (17 countries) of the European Network for the Study of Adrenal Tumours (ENSAT) with consecutive enrol...

Introduction: Combined pituitary hormone deficiency (CPHD) results in deficit of growth hormone and coexisting failure of synthesis or excretion at least another pituitary hormone. Transcription factors controlling expression of genes required for pituitary organogenesis are orchestrating entire development process and certain cell lineages differentiation, contributing therefore significantly to CPHD pathogenesis with childhood onset.Aims: The purpose o...

Background: Adrenal masses are discovered in 5% of abdominal imaging scans. Accuracy of currently available imaging tests to diagnose malignancy is poor. In a proof-of-concept study (JCE&M 2011;96(12):3775-84), we had demonstrated 90% sensitivity and specificity in detecting adrenocortical carcinoma (ACC) for urine steroid metabolomics, the combination of mass spectrometry-based steroid profiling and machine learning-based data analysis. This diagnostic performance is supe...

Background: Benign adrenal tumours (AT) can be non-functioning (NFAT) or associated with cortisol excess, as indicated by failure to suppress serum morning cortisol to <50 nmol/l in the 1mg-dexamethasone suppression test (1 mg-DST). The latter group divides into patients with clinically overt signs of cortisol excess (adrenal Cushing’s syndrome, CUSH) and patients lacking CUSH signs (mild autonomous cortisol excess, MACE). Smaller series and a recent meta-analysis rep...

Objective: Urine steroid metabolomics, combining mass spectrometry-based steroid profiling and machine learning, has been described as a novel diagnostic tool for detection of adrenocortical carcinoma (ACC). This proof-of-concept study evaluated the performance of urine steroid metabolomics as a tool for post-operative recurrence detection after microscopically complete (R0) resection of ACC.Methods: 135 ACC patients from 14 clinical centres provided pos...