Endocrine Abstracts

Background: Luteinizing hormone (LH) and choriogonadotropin (hCG) are glycoprotein hormones regulating ovarian function and pregnancy. They were routinely used in assisted reproduction techniques (ART) assuming they are equivalent, due to their binding to a common receptor (LHCGR). However, differences between LH and hCG were demonstrated at molecular and physiological level.Aim: The aim of this study is to evaluate how follicle-stimulating hormone (FSH)...

Background: Endothelial dysfunction leads to cardiovascular complications in type 2 diabetes mellitus (T2DM), through a reduction of nitric oxide (NO)-mediated relaxation. Phosphodiesterase-5 inhibitors (PDE5i) have hemodynamic effects, improving NO levels.Aim: To investigate if long term, chronic treatment with the PDE5i Vardenafil improves systemic endothelial function in men with T2DM.Methods: A longitudinal, prospective, invest...

Background: HIV-infection is associated to an increased prevalence of age-related comorbidities, such as erectile dysfunction (ED) and testosterone (T)-deficiency.Aim: Definition of ED and T-deficiency in HIV-infected men using validated sexual questionnaires and the gold standard assay for T measurement: isotopic dilution–liquid chromatography–tandem mass spectrometry (ID–LC–MS/MS)Methodology: Prospective, cros...

The human luteinizing hormone (LH)/choriogonadotropin (hCG) receptor (LHCGR) discriminates its two hormone ligands. LHCGR differs to the murine receptor (Lhr) in aminoacid residues potentially involved in qualitative discerning of LH and hCG, the latter absent in rodents. We aim to identify LHCGR residues involved in hCG/LH discrimination, indicating evolutionary determinants of human LH/hCG endocrine system. After comparing the LHCGR and Lhr sequences, we developed eight ...

Introduction: The use of multigene panels in thyroid nodule diagnosis is still limited, due to high costs and need for ad hoc sampling. Since BRAF-V600E is the commonest genetic alteration in differentiated thyroid cancer, this is the mostly tested genetic parameter in clinical practice.Aim: To evaluate the use of BRAF mutation analysis in wash-out liquid from fine needle aspiration (FNA) in clinical practice, characterizing th...

Background: GH–IGF1 status is important for bone health. Acromegaly affects bone status, but less is known on the role of treatments for acromegaly on bone mineral density (BMD). Pegvisomant (Peg) is effective in treating acromegaly by reducing IGF1. As serum GH is not influenced by Peg, it is not known if residual, direct GH effects on bone (not IGF1 mediated) are preserved during treatment.Methods: To evaluate the effects of Peg on BMD, we compare...

Introduction: At present, only eight men with loss-of-function mutations in the CYP19A1 gene have been described. Here we report the genetic study of four adult men with undetectable serum estrogens, unfused epiphyses, eunuchoid skeletal proportions, continuing linear growth, tall stature, genu valgum, osteoporosis, obesity and achantosis nigricans. Patient 1 (26-years/182 cm) and 2 (28-years/187 cm) are from Turkey with a history of consanguinity. Patient 3 (44-years...

Introduction: Follicular thyroid carcinomas (FTC) are the second most common type of thyroid malignancy. Micro-RNAs (miRNAs) are a new class of small, noncoding RNAs whose expression is deregulated in many types of human cancers and may lend novel clues to FTC genesis. Pre-miR146a represents one of the most up-regulated miRNAs in papillary thyroid carcinomas (PTC) and a SNP (rs2910164), identified in pre-miR146a, contributes to genetic predisposition to PTC, but data on FTC ar...

Introduction: The mechanism underlying the development of follicular thyroid carcinoma (FTC), the second commonest thyroid tumor, is still unknown. An interesting hypothesis is that changes in the expression of multiple regulatory RNA (miR) genes may be a major mechanism in thyroid carcinogenesis. For example, several studies suggested that SNP rs2910164 in the pre-miR146a, a precursor of miR146a, might be correlated to papillary carcinoma. The aim of this study was the evalua...

Background: Thyroid nodules represent a common clinical finding and their prevalence is increasing worldwide. However, the most recent international guidelines do not give indications on the need to retest adults with previous negative neck ultrasound (US).Aim: To evaluate the incidence of thyroid US abnormalities in patients with previous negative thyroid US and identify patient’s characteristics able to predict the risk of developing thyroid disea...