Endocrine Abstracts

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...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. Autosomal recessive mutations in HADH gene are a rare cause of CHI. The advances in CRISPR/Cas9 gene editing technology has enabled the i...

Glycemic variability (GV), a complex phenomenon affecting subjects with diabetes, is one of the main contributors to the risk to develop both acute and long-term complications in type 1 (T1D) and type 2 (T2D) subjects. DNA double-strand breaks, apoptosis, overgeneration of reactive oxygen species (ROS) and the induction of some regulatory micro-RNAs, sustain the ominous mechanisms mainly attributable to GV. The characteristic cellular phenotype induced by GV is scarcely define...

Background and Objective: Although several epidemiological studies have been conducted, the impact of Follicle Stimulating Hormone Receptor (FSHR) polymorphisms on male infertility remains unclear. The aim of this study was to investigate the prevalence of specific FSHR Single Nucleotide Polymorphisms (SNPs) in the Greek population and associate the latter with the clinical phenotype.Patients and Methods: We enrolled 96 subjects: men with idiopathic non-...

Background: Polycystic ovarian syndrome (PCOS) is a common reproductive-endocrine disorder seen in women; characterized by increased GnRH pulsatility, hyperandrogenism, and cyst formation in ovary. GnRH release is controlled by higher centres of brain namely, hypothalamus and pituitary through various feedback mechanisms, one of them being neurotransmitters. However, no clear data is available with respect to GnRH regulation by neurotransmitters in PCOS. The aim of the present...

Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the calcitonin-secreting neuroendocrine parafollicular cells of the thyroid. It accounts for 5–10% of all thyroid cancers, and it mostly occurs as a sporadic entity (sMTC), but a familial pattern is also possible. Somatic mutations of RET are reported in 20–80% of sMTCs. The majority of MTCs harbour a RET M918T-exon 16 mutation. In sporadic MTCs the RET gene is mutated in codon 918, w...

Pituitary apoplexy (PA) is a rare but life-threatening medical emergency. Common predisposing factors include closed head trauma, blood pressure alterations, history of pituitary irradiation, cardiac surgery, anticoagulation, treatment with dopamine agonists, pituitary stimulation testing, and pregnancy. Hantaviruses belonging to the Bunyaviridae family are a group of rodent- or insectivore-borne single-strand ribonucleic acid (RNA) viruses. In humans, hantaviruses can cause h...

Background: Risk of developing papillary thyroid carcinoma (PTC), the most frequent thyroid malignancy, is elevated up to 8.6-fold in the first-degree relatives of PTC patients, what could be explained by polygenic action of low-penetrance alleles. Since the DNA-damaging exposure to ionizing radiation is a known risk factor for thyroid cancer, polymorphisms in DNA repair genes are likely to affect this risk. Among the DNA repair proteins, the ATM–CHEK2–BRCA1 axis see...

Background and objectives: Certain diseases, such as multiple endocrine neoplasia type 2A (MEN2A), MEN2B, familial and sporadic medullary thyroid carcinoma (MTC) and renal dysgenesis are related to abnormalities of the RET protein. Our aim was to evaluate the frequency of RET mutation in ten Saudi families with MEN2A and familial medullary thyroid carcinoma.Design and setting: Cross-sectional prospective study of patients followed up at King Abd...

Background: Exposure to environmental radiation can cause stress and cumulative effect of such stress leads to DNA strand brake. Testicular function is particularly susceptible to radiation emitted by electromagnetic fields. Reports of declining male fertility have renewed interest in the role of environmental and occupational exposures in the aetiology of human infertility.Objectives: The aim of the present work was to investigate the effect of 10 GHz e...