Endocrine Abstracts

Background: Guillain-Barré syndrome is a rare but very serious autoimmune disorder and it’s caused by the immune led demyelination of the peripheral nervous system. The symptoms are mainly weakness and numbness, but can also consist in severe respiratory failure due to paralysis. The treatment consist in administration of intravenous immunoglobulins (IVIGs) which shorten the duration of disease.Case presentation: A 67 year-old m...

Introduction: Despite the presence of antinuclear (ANA) and anti DNA antibodies in Graves’ disease, the association with Systemic Lupus Erythematosus (SLE) is rare. Responsible for this association seem to be mutations in the PTPN22 gene.Case Report: We report a case of a 27-year-old woman, who presented in January 2009 in our department, at 6 months postpartum, after extensive investigations for autoimmune disease. She had negative results for poly...

Background: Androgen receptor (AR) activity is modulated by the length of CAG-repeat polymorphism in exon 1. Published data suggest association between CAG-repeat alleles and PCOS, but not all studies confirmed this finding.Aim: To test association of AR alleles with PCOS and clinical and biochemical signs of hyperandrogenism.Study design: Case–control association study, approved by the institutional ethical committee, of 137 ...

Background: Hyperandrogenism (HA) is required for diagnosis of polycystic ovary syndrome (PCOS) and it is central to PCOS pathogenesis. Putative mechanisms of hyperandrogenism include disregulation of steroidogenesis, plasma transport and peripheral tissue regulation. Therefore, 5-alpha reductase genes (SRD5A1, SRD5A2), that regulate peripheral tissue conversion of testosterone to more potent dihydrotestosterone are good PCOS candidate genes. The single published study of SRD5...