Endocrine Abstracts

Introduction: 5 Alpha reductase deficiency (5-ARD) is a rare autosomal recessive disorder causing disturbance of sex development. 5 Alpha reductase is an enzyme involved in steroid metabolism, catalyzing testosterone into dihydrotestosterone (DHT), its potent form. 5-ARD therefore results in lower DHT and higher testosterone values. DHT is crucial for the differentiation of the urogenital sinus and genital tubercle into the external genitalia, urethra and prostate, while the v...

Clinical features of the primary prostate tumor remain insufficient for clinicians to accurately define patients at highest risk of developing metastases. However, the primary tumor is the source of these metastases, and thus should contain information on its metastatic potential. We hypothesized that the combination of a primary tumor’s copy number alterations (CNAs) and genome-wide transcriptome information would give us more insight in the biology of metastases-prone l...