Endocrine Abstracts

Objective: Glucocorticoids exert their effects through the glucocorticoid receptor (GR). The local, cell-type specific glucocorticoid effect is modulated by the 11β-hydroxysteroid dehydrogenase enzymes (HSD11B) responsible for the interconversion of cortisone and cortisol. Individual sensitivity against glucocorticoids and activity of the HSD11B enzymes are at least partly determined by genetic factors.Aim: To test whether SNPs of GR and HSD11B1 gen...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by 21-hydroxylase deficiency in 95% of all cases. Two main clinical subtypes: the classical (manifested after birth, or in early newborn period) and the late onset (LO) phenotype (manifested commonly during puberty). The lifelong glucocorticoid (GC) supplementation is essential in therapy of these patients. Response to GC therapy is individual and partly genetically determined....

Thyroid cancers represent ~1% of new cancer diagnoses. Thyroid malignancies are divided into papillary carcinomas (80%), follicular carcinomas (10%), medullary carcinomas (5–10%), anaplastic carcinomas (1–2%), and other rare tumours (primary thyroid lymphomas and primary thyroid sarcomas). The main therapeutic options are surgery (mainly total thyreoidectomy), radioiodine treatment, levothyroxine therapy (TSH suppression dose), others (external beam irradiation, chem...

Introduction: The human GNAS gene is coding for the alpha stimulatory subunit of the guanine nucleotide-binding protein. This G protein stimulates the activity of the adenylate cyclase enzyme which is in control of the production of various hormones in endocrine glands and also regulates bone development. Mutations in GNAS can lead to McCune Albright syndrome, progressive osseous heteroplasia or pseudohypoparathyroidism.Aim: Our aim was to find the genet...

Introduction: Multiple endocrine neoplasia (MEN) type 1 is a rare congenital disease with genetic background. The MEN-1 gene encodes menin protein, that acts as a tumor suppressor. Mutation of one allele and the inactivation of the other allele of this gene lead to clonal proliferation and to the development of tumors. The clinical manifestation of MEN type 1 is a combination of endocrine (parathyroid adenomas, entero-pancreatic neuroendocrine tumors, pituitary tumors) and non...

Background: Abnormal microRNAs (miRNAs) expression profiles have been recently associated with sporadic pituitary adenomas, suggesting that miRNAs can contribute to tumor formation. miRNAs are small noncoding RNAs which inhibit post-transcriptional expression of target mRNAs by binding to complementary sequences usually located in the 3′ untranslated region (3′UTR). However, the substantial lack of knowledge about miRNAs’ targets hinder full understanding of t...

Objective: Sporadic adrenocortical tumors are common, but their pathogenesis is poorly elucidated. Several mRNA profiling and comparative genome hybridization (CGH) studies have been performed on adrenocortical tumors to date. Meta-analysis of these results may be warranted due to the low number of tumor samples examined in several individual studies. Here, we present an integrative meta-analysis of gene expression microarray and CGH studies performed to date on sporadic adren...

Introduction: MicroRNAs (miRs) are 16–29 nucleotide long, non-coding RNA molecules that post-transcriptionally regulate gene expression via RNA interference. It has been shown that they participate in control of cell proliferation, cell differentiation, signal transduction, cell death and carcinogenesis.Aim: To examine the role of the miRs in sporadic pituitary tumourigenesis.Methods: Twenty-five sporadic pituitary adenoma spe...

New possible pathogenic variants involved in pheochromocytomas and paragangliomasIntroduction: Pheochromocytomas and paragangliomas (PPGLs) are rare tumors of the chromaffin tissues that store and release catecholamines in excess. Most pheochromocytomas are sporadic, usually resulting in unilateral adrenal tumor, but 25–45% harbour a germline mutation.Aim: To describe new possible pathogenic variants (VUS) involved in PPGLs.</...

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...