Endocrine Abstracts

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...

Introduction: LH and hCG act on the same receptor (LHCGR), but it is not known whether they elicit the same cellular and molecular response. This study aims at comparing the activation of cell-signalling pathways and gene expression in response to LH and hCG.Design: We evaluated the activation of cAMP, ERK and AKT-pathways and progesterone production by ELISA and Western blotting in human primary granulosa cells (hGLC) stimulated for up to 36 hours with ...

Background: Patients thyroidectomized for thyroid cancer need variable doses of levothyroxine (LT4) to obtain TSH suppression. A predetermined thyroid function set-point for each individual has been hypothesized, suggesting a genetic influence in the regulation of pituitary-thyroid axis. We hypothesized of the TRHR gene could be associated with a different hypothalamo-pituitary sensitivity to the negative feedback of the thyroid hormones.<p class=...

Introduction: US-FNAB is the most cost/effective and accurate diagnostic procedure for the evaluation of thyroid nodules. In the clinic, the nursing assistance is not always available for the US-FNAB procedure in all endocrinological centers and its value remains to be established.Aim of the Study: To demonstrate the role of nursing assistance in US-FNAB procedures in improving the efficiency of this procedure.Methods: All clinical...

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...

Background: The use of prophylactic central neck dissection, especially for low-risk differentiated thyroid cancer, is still very variable from center to center. Obviously, central dissection does allow more complete staging of cancer, including identification of metastases not detectable on preoperative ultrasound. However, it could lead to higher risk of hypoparathyroidism. Above all, it is not entirely clear whether the identification of metastases of the central compartmen...