ABSTRACT
OBJECTIVE: To evaluate the occurrence of mutations of 5alpha-reductase type 2 gene in patients with cryptorchidism or idiopathic azoospermia. DESIGN: Controlled clinical study. SETTING: Yamagata University Hospital, Yamagata and Tokyo Electric Power Company Hospital, Tokyo, Japan. PATIENT(S): Patients with isolated cryptorchidism (n = 48) or idiopathic azoospermia (n = 33) and a control group of males with proven fertility (n = 51). INTERVENTION(S): Collection and analysis of blood, leukocytic DNA, semen, and testicular biopsy. MAIN OUTCOME MEASURE(S): Semen analysis, screening of the 5alpha-reductase type 2 gene within exon 1 using direct sequencing and exons 2-5 using single strand conformational polymorphism analysis. RESULT(S): No mutations were detected in isolated cryptorchid men, idiopathic azoospermic men, or controls within the 5 exons of the 5alpha-reductase type 2 gene. CONCLUSION(S): 5Alpha-reductase type 2 gene abnormalities do not constitute a major factor in the development of cryptorchidism or idiopathic azoospermia.
