Endocrine Abstracts

Background: The recognition of the erectile dysfunction (ED) pathogenesis is essential to identify the appropriate ED management. Since vascular ED (vED) could be a manifestation of a systemic arterial damage, the watershed in the ED diagnostic framework is the discrimination between psychological (pED) and vED. However, reliable tools to directly diagnose pED are currently lacking.Aim of the study: To identify which parameters could predict pED. Moreove...

Background: Testicular overstimulation is the pursued therapeutic goal when exogenous follicle-stimulating hormone (FSH) is empirically administered to men with idiopathic infertility. Although a robust physiological rationale theoretically supports the FSH use in male idiopathic infertility, useful markers to evaluate its efficacy are still far from being detected. While pregnancy rate remains the strong outcome in couple infertility management, the identification of reliable...

Pheochromocytoma is a rare tumor made up of chromaffin cells from the adrenal medulla that secrete catecholamines. It can occur at any age, with a peak incidence between the fourth and fifth decade of life, and only 10% of cases occur in children. The majority of cases are sporadic and approximately 10% are malignant. The existence of familial syndrome, multiple or extra adrenal tumors is more common at younger ages. The clinic is very variable, and hypertension (HTA) is the m...

Introduction: MODYs are being identified more frequently but the rarity of some types still precludes in-dept knowledge of their natural course of disease. One of this rare forms is MODY 5, the result of a mutation on the hepatocyte nuclear factor 1 beta (HNF-1B) gene that associates with genitourinary and pancreatic malformations/dysfunction.Case report: A 24-year-old female was referred to the Endocrinology clinic due to hyperglycaemia identified on pr...

A female patient was first referred to the Endocrinology department due to primary amenorrhea at age 37. She mentioned trans-sphenoidal surgery at age 15 due to a craniopharyngioma and the indication to be supplemented with hydrocortisone (HC) and DDAVP, that she adhered to until age 20, when she abandoned all appointments. Apart from that, she mentioned normal pubertal development and said she was generally healthy. She denied any episodes compatible with Addisonian crises. F...

Introduction: Primary lymphoma of the thyroid (PTL) is a rare cause of malignancy, accounting for 5% of thyroid malignancies, with an annual estimated incidence of 2 per 1 million. Women are more commonly affected than men (2–8:1). Patients typically present in the sixth or seventh decade of life. Most thyroid lymphomas are non-Hodgkin’s lymphomas (NHLs) of B-cell origin. Patients with Hashimoto’s thyroiditis are at greater risk for developing PTL. Treatment and...

Introduction: The detection of a unique genetic marker is not possible for multifactorial diseases, such as thyroid cancer (TC), where the pathological phenotype is given by the contribution of multiple genes, environmental factors and lifestyle. We found a mathematical model for inferring the risk of thyroid cancer, an example of multifactorial disease.Methods: Genetic data represented by 184 SNPs associated to thyroid tumors were used for Bayesian clus...

Background: Luteinizing hormone (LH) and human chorionic gonadotropin (hCG) act on the same receptor, activating different signal transduction pathways. The role of LH or hCG addition to follicle stimulating hormone (FSH) as well as menopausal gonadotropins (hMG) in controlled ovarian stimulation (COS) is debated.Aim: To compare FSH+LH, or FSH+hCG or hMG vs FSH alone on COS outcomes.Design: A meta-analysis according to PRISMA state...

Introduction: Sphingosine-1-phosphate (S1P) is a sphingolipid mediating proliferative signals in human ovarian follicles, acting through five receptors (S1PR1-5). We characterized the effects of S1PR1 and S1PR3 in vitro, as those mostly expressed in human primary granulosa cells (hGLC) and immortalized, tumor-like granulosa cell line (hGL5).Methods: The S1P-mediated signaling, as well as the activity of S1PR1- and S1PR3-specific agonists (SEW281...

Introduction: Reproduction exhibit a regular cyclicity and is regulated by complex interactions between circadian signals, gonadotropins and sex steroid hormones. Peripheral circadian rhythm is generated upon cyclic transcription of clock genes expressed in several cells, e.g. granulosa cells in the ovary. Here we investigated whether cyclic intracellular events occurring in response to gonadotropins are linked to expression of clock genes.Methods: Prima...