Endocrine Abstracts

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. IHH could be associated or not with anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic IHH (nIHH). So far numerous causative genetic defects have been described, but very recent molecular genetic studies and animal models have opened novel perspectives. We are studying a series of 16 KS (14M,2F) and 18 nIHH (14M,4F). Al...

Oxidative stress is associated with chronic alcoholic abuse; it is also a mechanism involved in male infertility. To further investigate the relationships between these two conditions, we studied 6 patients with diagnosis of Alcohol Dependence (DSM-IV) during post-detoxification phase, who consulted our centre for infertility. We evaluated seminal parameters, hormone pattern, Total Antioxidant Capacity (TAC) and the lipophilic antioxidant Coenzyme Q10 (CoQ10), both in blood an...

Background: Phosphoprotein enriched in diabetes (PED) is a scaffold protein widely produced in different tissues; it is involved in multiple cellular functions, including insulin-regulated glucose transport. Previous findings showed that in individuals with type 2 diabetes (T2D) the PED gene is overexpressed in skeletal muscle (SM) and adipose tissue (AT), both target tissues for insulin activity. Our group has recently evidenced that PED protein is also expressed in periphera...

Abdominal obese (AO) women might have a hyperactivation of the HPA axis. The limitations of previous studies have been often represented by the limited and heterogeneous number of patients enrolled. Our aim was to asses urinary free cortisol (UFC) output during daily and nightly hours in a large cohort of AO women vs. normal weight controls (CT). 107 AO women and 37 CT were enrolled in the study. In basal condition, each subject underwent OGTT, biochemical determinations. Each...

The insecticide DDT has been shown to inhibit both the basal and the TSH stimulated accumulation of cAMP in CHO stably transfected with the TSHr (CHO-TSHr). Aim of this study was to evaluate whether the DDT has a similar effect on cells transfected with TSHr mutants displaying a high level of constitutive activity. In addition we investigate the effect of DDT on cells transfected with wtFSHr and wtLHr which share a high degree of amino-acid homology sequence with wtTSHr. In co...

We previously described a significant response to RTX treatment in patients with active TAO, with no effect on TRAb and hyperthyroidism. In order to study the effect of RTX in the orbit, we analyzed the orbital tissues of 9 patients with TAO at decompression after RTX (n.2) or other treatments. Decompression was carried out in 2 patients for sight threatening optic neuropathy and in 7 for correction of proptosis. Of the RTX treated patients, one was decompressed after 12 month...

Thyroid hormones (TH) synthesis requires iodine, a scarce element whose recycling is mediated by the iodotyrosine dehalogenase (encoded by the DEHAL1 gene) through deiodination of mono- and di-iodotyrosines. In humans, biallelic mutations in DEHAL1 lead to a severe form of congenital hypothyroidism (CH) non detectable by neonatal screening programs, which involves the risk of mental retardation. The timing and triggering factors of this particular type of hyp...

Background: Radiofrequency ablation(RFA) has been advocated as an alternative to radioiodine and/or surgery for the treatment of autonomously functioning benign thyroid nodule (AFTN). However, only a few studies have investigated the efficacy of RFA on AFTN. Furthermore, these studies are characterized by several biases about patient selection, number of RFA treatments, short clinical and radiographic follow-up. A recent prospective 12-month study has demonstrated that one sin...

Context: T regulatory type 1 (Tr1) cells are a subpopulation of T lymphocytes (CD4+CD49+LAG-3+IL-10+) lymphocytes that exerts a significant immunosuppressive effect. However, its possible role in autoimmune thyroid disease (AITD) had not been explored so far.Objective: To analyze the levels and function of Tr1 cells in peripheral blood and thyroid tissue of patients with AITD.Design: Cases and controls, observational study.<p c...

BackgroudPrimary hyperparathyroidism (PHPT) is associated with impaired bone quality and increased fracture risk. Reliable tools for the evaluation of bone quality parameters are not yet clinically available. Bone Strain Index (BSI) is a new metric for bone strength based on Finite Element Analysis from lumbar spine and femoral neck dual X-ray absorptiometry images.AimTo assess the lumbar spine (LS), femoral ...