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...