Endocrine Abstracts

Mutations in the androgen receptor (AR) are associated with androgen insensitivity syndrome (AIS). Most AIS mutations affect either hormone, DNA or coactivator binding to the AR, but for some mutations there was no explanation yet. Recently, a crystal structure revealed a possible dimerization interface in the ligand binding domain (LBD) of the AR.1 To test the physiological relevance of this LBD dimerization, we generated a mouse model with a W732R mutation located...

Background: In patients with testicular dysgenesis syndrome, reduced semen quality and testicular cancer are common. We report a case of a testicular tumour in a patient with a history of cryptorchidism and oligoasthenospermia. He had an unusual hormonal profile, which was not fully explained by the pathological findings.Case: A 31-year-old man was referred to our tertiary care andrology unit for primary infertility with a history of bilateral orchidopex...

Most mutations found in the androgen receptor (AR) are associated with some form of androgen insensitivity syndrome (AIS), and correlate with a loss of either hormone, DNA or coactivator binding. For some mutations in the ligand binding domain (LBD) of the AR, it is unclear what the underlying mechanism of the AIS could be. In the beginning of 2017, a new dimerization interface was uncovered in a crystal structure of the ligand-binding domain (LBD) which provides a possible me...

Objective: The role of thyroid hormones in the control of erectile functioning has been only marginally investigated. The aim of this study is to investigate the association between thyroid and erectile function in a general population sample (European Male Aging study, EMAS study) and in patients seeking medical care for sexual dysfunction (University of Florence Study, UNIFI study).Participants: Two different cohorts of subjects were evaluated. The fir...