Endocrine Abstracts

Background: The standard, lifelong therapy of phenylketonuria (PKU) is natural protein-restricted diet completed with Phenylalanine (Phe)-free L-amino acid mixtures that provide the daily necessary micronutrients, such as iodine and selenium. Our main objective in this study was to assess the iodine and selenium status of patients with PKU, based on their adherence to the low-Phe diet, compared to a healthy control group. Secondly, we aimed to asses whether adherence to therap...

Background: Few effective medical treatment options are available for adrenocortical carcinoma (ACC). Intensive efforts are therefore going on for exploring novel pathways and treatment targets.Objective: To perform a proteomic and pathway analysis on a 9-cisRA (9-cis retinoic acid) and mitotane-treated ACC xenograft model.Methods: 43 male SCID mice xenografted with NCI-H295R cells were treated in four groups (i. control, ii. 5 mg/...

Introduction: There are three principal high-throughput methods that have been widely used to determine whole genome miRNAs expression profiles: i) microarrays, ii) qPCR based arrays, and iii) next generation sequencing (NGS). Our aim was to compare the results obtained from these platforms in normal and adenomatous pituitary samples and to validate the results by an independent sample set using qPCR.Material and methods: Using four normal pituitary (NP)...

Background: Current drug treatment options for adrenocortical carcinoma (ACC) are rather limited and intensive efforts are going on to find novel effective agents. In our previous functional genomics study, retinoid signalling via the retinoid X receptor (RXR) was identified as a major pathogenic pathway in ACC and we have demonstrated the in vitro activity of 9-cis retinoic acid (9-cisRA) acting via the RXR on NCI-H295R cells and also found that 9-cisRA has antitumou...

Background: The medical treatment options of adrenocortical cancer are limited. In our previous meta-analysis of adrenocortical tumor genomics data, adrenocortical cancer was found to be associated with reduced retinoic acid production and retinoid X receptor-mediated signaling.Objective: To study the potential antitumoral effects of 9-cis-retinoic acid (9-cisRA) on the adrenocortical cancer cell line NCI-H295R and in a xenograft model....

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 ...

Background: Adrenal myelolipoma (AML) is a relatively common and invariably benign tumor composed of adipose tissue and hematopoietic elements. Due to the variable proportion of fat and hematopoietic elements, it is sometimes challenging to differentiate AML from adrenocortical carcinoma (ACC). MicroRNAs have been identified as promising biomarkers in many tumors, including adrenocortical neoplasms, but the microRNA expression of adrenal myelolipoma has not been investigated, ...

Introduction: Pheochromocytomas and paragangliomas (Pheo/PGL) are rare neuroendocrine tumours arising from the adrenal medulla or the symphathetic paraganglia, respectively. Germline mutations are present in ~40% of the patients. To date, at least 16 genes have been demonstrated to be involved in the genetic background of Pheo/PGL. Prioritization in order of genes tested can be applied, but if the probability of a disease-associated germline mutation exceeds 10% the testing of...

Introduction: Disrupted mitochondrial functions and genetic variations of mitochondrial DNA (mtDNA) have been observed in different tumors. Regarding pituitary adenomas mtDNA was evaluated only in oncocytic type using PCR based methods and it showed high prevalence of Complex I variants. Next generation sequencing (NGS) allows high throughput sequencing and it is useful for accurate identification of heteroplasmy of mitochondrial genome as well.Aim: We a...