5α-reductase type 2 genes in Japanese males do not appear to be associated with cryptorchidism

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.