Endocrine Abstracts

Neuroendocrine neoplasms (NENs) are rare tumour showing a wide spectrum of clinical behaviours. Therapeutic options available for NET treatment are rarely curative and mostly palliative, as NETs frequently show resistance to pharmacological therapy. Cancers develop in complex tissue environments, which they depend on. Tumour-associated macrophages (TAMs) are a major cellular component of the tumour microenvironment. Two polarized state of macrophages are described in literatur...

Illegitimate membrane receptors are known to play a role in cortisol secretion in adrenal adenomas and ACTH-independent macronodular adrenal hyperplasia (AIMAH) causing Cushing’s syndrome. Conversely, illegitimate receptors have never been described in primary pigmented nodular adrenal disease (PPNAD). In the normal adrenal gland, serotonin (5-HT) has been shown to stimulate cortisol secretion through activation of 5-HT receptor type 4 (5-HT4) whereas, in some AIMAH tissu...

Background: Hormonal studies have detected subtle abnormalities of the hypothalamic–pituitary–adrenal (HPA) axis due to autonomous cortisol secretion, in a percentage of patients with adrenal incidentalomas, a condition termed as subclinical Cushing’s syndrome. The diagnostic criteria and the clinical significance of this condition are still controversial and consequently there is uncertainty for its management. Data defining the natural course of these tumors, ...

Objective: Tumor-induced osteomalacia is a rare paraneoplastic syndrome in which fibroblast growth factor 23 (FGF-23) hyperproduction by tumor causes renal phosphate wasting, severe hypophosphatemia and osteomalacia. Localization of the tumor can be a major diagnostic challenge.Material and methods: We present a clinical case concerning a 62-year old woman previously diagnosed with hypophosphatemic osteomalacia, with a slight improvement of clinical and ...

During the Chernobyl nuclear power plant accident (ChNPPA) a mixture of radioactive isotopes, mainly the iodine and cesium, were released, which through inhalation and food, and in some cases along with external exposure had affected the hormone-producing cells of endocrine system. Within days and months after the accident, the thyroid and parathyroids accumulated a significant amount of these isotopes with thyroid gland becoming a secondary emitter, which further increased th...

MiR-346 is an Androgen Receptor (AR)-activating miR that associates with DNA damage response (DDR)-linked transcripts in prostate cancer (PC). MiR-346 induces rapid and extensive DNA damage in PC cells through chromatin association, activation of transcription, R-loop formation and DNA replication stress, leading to checkpoint activation and cell cycle arrest. MiR-346 interacts with lncRNA, NORAD, in PC cells, which functions to maintain mitosis, DDR, and chromosomal integrity...

ARMC5 is a tumor suppressor gene responsible for 20 to 40% of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) with a function that remains unclear. Based on pathway analysis from RNAseq results obtained on zebrafish models of transient Armc5 up- and down-regulation, we identified transcriptional alterations of several members of SIRT1 (sirtuin (silent mating type information regulation 2 homolog) 1) signaling in our models and hypothesized that ARM...

Introduction: Alterations of the cAMP signaling pathway are described in adrenal tumors causing Cushing syndrome, specifically mutations in the gene coding for the protein kinase A (PKA) catalytic subunit alpha (PRAKCA) in cortisol producing adenomas (CPA) with overt Cushing syndrome.Materiel and Methods: Eight CPAs without PRKACA mutations were analyzed by whole exome sequencing. Direct sequencing of PRAKCB encoding for the catalytic subunit beta (C&#94...

Introduction: Patients with “mixed” phenotypes are common among patients with multiple endocrine and non-endocrine neoplasias. Their diagnoses do not fit a given pattern making ge netic counseling difficult and testing impossible to guide. Most of these patients end up getting genome-wide studies for the identification of any predisposing genetic defect. We present a rare case of a 57 year old female who presented clinically with medullary thyroid cancer (MTC), mesot...

Background and aims: Over 200 000 international adoptions by US families occurred between 1999–2010. Prior studies suggest that the effects of institutionalized care on growth and development may not be fully reversible. The exact mechanisms through which early life stress affect biobehavioral outcomes have yet to be determined, but environmental influences could regulate both biobehavoral outcomes through an effect on the hypothalamic-pituitary-adrenal (HPA) axis.<p ...