Endocrine Abstracts

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: 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: 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: 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...

Introduction: Primary aldosteronism (PA) is a major cause of secondary hypertension. The two major forms of sporadic PA (aldosterone producing adenoma – APA and bilateral adrenal hyperplasia – BAH) can only be reliably differentiated by adrenal venous sampling (AVS). Several mutations have been described for APA, but the pathogenesis of BAH is poorly elucidated. Differentiation of APA and BAH is clinically pivotal, as their treatment is different. There is no blood-b...

Introduction: Spindle cell oncocytomas (SCO) of the pituitary are rare tumors accounting for 0.1–0.4% of all sellar tumors. Due to its rarity, little information is available regarding its pathogonesis. The altered gene expression and the possible pathogenetic role of microRNAs (miRNAs) have been identified in many tumor types, however, until now ther is no data regarding their role in pituitary oncocytoma.Materials and methods: Total RNA was extrac...

Pheochromocytoma/paragangliomas (Pheo/PGL) are rare neuroendocrine cancers with strong genetic background. Mutations in the SDHB subunit of succinate dehydrogenase (SDH) predispose to malignant disease with limited therapeutic options and poor prognosis. Novel prognostic markers and therapeutic targets are required to decrease the high mortality rate. Glutaminases play a crucial role in the metabolism of SDH impaired tumor cells. By using a host of cellular and molecu...