Endocrine Abstracts

Measuring total testosterone level is the first line approach to assess androgen excess in women. Most laboratories in Europe use direct testosterone immunoassay without prior extraction. In the near future, liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) will be commonly used for measuring testosterone, providing the best accuracy with low limit of detection. In all cases, testosterone norms must be standardized for normal premenopausal women values. Wh...

Objective: Silent corticotroph adenomas (SCA) are rare pituitary tumours immunoreactive for ACTH but without clinical evidence of Cushing’s disease. They have been compared to non functioning pituitary adenomas or ACTH adenomas with Cushing’s disease, but no distinction has been made between micro and macro ACTH-adenomas. We characterize SCA on clinical, hormonal and molecular data and compared the characteristic of these tumours with those of macro (MCA) and micro A...

Background: Hyperandrogenism is a main feature of the polycystic ovary syndrome (PCOS). Although its ovarian origin is well recognized, laboratory investigation suggested the contribution of adrenal gland, albeit of unknown mechanism.Aim: To understand the contribution of genetic factors in adrenal hyperandrogenism (AH) we investigated genome wide SNPs in subgroups of PCOS patients stratified as function of DHEAS levels in two ethnic populations (Romania...

Introduction: Cryptorchidism, the most frequent congenital malformation in full-term male newborns, increases risk of infertility and testicular cancer. Most cases remain idiopathic but epidemiological and experimental studies have suggested the role of both genetic and environmental factors. Physiological testicular descent is regulated by two major Leydig cell hormones: Insulin-like peptide 3 (INSL3) and testosterone.Methods and results: From a prospec...

Introduction: Testosterone circulates in the blood mainly bound to albumin and human sex-hormone-binding globulin (hSHBG). It is generally admitted that only the protein unbound fraction of testosterone (free hormone hypothesis) is biologically active. From our routine SHBG binding assay, we observed that SHBG concentration may have an influence on its affinity for testosterone (personal data). To further explore this assumption we used surface plasmon resonance (SPR, Biacore)...

Objective: To determine the frequency of mutations of the gonadotropin-releasing hormone receptor (GnRHR) and of the G protein-coupled receptor 54 (GPR54) genes in normosmic idiopathic hypogonadotropic hypogonadism patients (IHH).Methods: In a retrospective study we analysed the GnRHR and the GPR54 genes of 327 IHH patients including 105 females (36.5%) and 183 males (63.5%). Among the index cases (288 siblings) 267 were sporadic form (92.7...