Endocrine Abstracts

The activin/transforming growth factor-β (TGF-β) is a family of evolutionary conserved polypeptides. Their role has been implicated in the regulation of embryonic development, reproduction and tumor formation.Related to tumorigenesis TGF-β signaling inhibits cell proliferation at multiple levels by i) inducing the expression of tumor suppressors p15Ink4b and p21Waf1, ii) repressing oncogenic factors such as c-MYC and ...

Objective: Phenotypic variability and lack of genotype-phenotype correlations still represent a major challenge in the surveillance of patients carrying germline MEN1 (Multiple Endocrine Neoplasia type 1) mutations. MEN1 associated gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are highly penetrant and show an indolent course. However, they are still the leading cause of death in MEN1 syndrome. Some single-center and national studies reported higher prevalence of GEP-...

Medullary thyroid carcinoma (MTC) originates from the parafollicular or C cells of the thyroid gland and represents approximately 10% of all thyroid malignancies. The operational classification of FMTC is four or more family members with MTC without objective evidence of pheochromocytoma (PC) and parathyroid hyperplasia. In multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid cancer (FMTC), the majority of germline mutations are restricted to specific p...

Background: Peripheral clocks are set by different nervous, hormonal and metabolic stimuli and regulate the circadian expression of several genes. It has been demonstrated that circadian oscillation of gene expression can be detected in various cell lines in vitro.Aim: To explore whether a peripheral clock could be induced in human adrenocortical cell line H295R and what are the effects of glucocorticoids on this clock system.<p class="abste...

Congenital adrenal hyperplasia (CAH) is usually caused by the mutations of steroid 21-hydroxylase gene (CYP21A2). CYP21A2 resides in RCCX copy number variation (CNV), and the genomic structure of RCCX CNV creates difficulties in the genetic testing of CAH. An RCCX CNV allele on one chromosome can carry CYP21A2 in various numbers. Homozygous deletion of complete CYP21A2 results in most severe form of CAH, whereas an additional and intact ...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, most commonly caused by CYP21A2 mutations, and characterized by disturbed cortisol and androgen synthesis. Clinical manifestations of classical 21-hydroxylase deficiency are virilisation and salt-waisting syndrome in both sexes. Adrenal tumors may appear in untreated CAH patients, but very rarely following adequate long-term therapy.Case report: The 17-years-old male p...

Hereditary genetic variants are common among patients with endocrine tumours. Some specific clinical conditions are informative for certain monogenic syndromes (i.e., Carney complex, MEN1, MEN2, von Hippel Lindau syndrome) but manifestations characteristic for these syndromes occur more commonly as apparently sporadic. Other tumours, i.e., pheochromocytoma/paragangliomas (PPGL) are linked to multiple genes, hence a multigene approach in molecular genetic testing strategy is re...

Introduction: Minimally invasive blood-borne circulating microRNAs might be used for the preoperative differentiation of adrenocortical carcinoma (ACC) and adrenocortical adenoma (ACA). Circulating hsa-miR-483-5p is so far the best microRNA biomarker of ACC. To the best of our knowledge, there have been no studies concerning the potential applicability of urinary has-miR-483-5p as a non-invasive biomarker of ACC and its correlation with plasma hsa-miR-483...

Background: Although the role of hypermethylation of certain tumor suppressor genes are known in pituitary adenomas little information is available regarding whole methylation-demethylation status and especially regarding its correlation with clinical parameters. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) is an easy and accurate method to detect the level of methylcytosine (5 mC) and the demethylation intermedier hydroxymethylcytosine (5 hmC) ...

Objective: MicroRNAs are short non-protein coding RNA molecules involved in the regulation of numerous homeostatic processes via modulating gene expression. There are some data that the expression of microRNA might be modulated by hormones, but the interaction of hormones and circulating microRNAs of adrenocortical origin is mostly unknown.Methods: The expression of six selected circulating microRNAs (hsa-miR-27a, hsa-miR-125b-2, hsa-miR-200b, hsa-miR-21...