5Alpha-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.


METHODS
Controlled clinical study.


METHODS
Yamagata University Hospital, Yamagata and Tokyo Electric Power Company Hospital, Tokyo, Japan.


METHODS
Patients with isolated cryptorchidism (n = 48) or idiopathic azoospermia (n = 33) and a control group of males with proven fertility (n = 51).


METHODS
Collection and analysis of blood, leukocytic DNA, semen, and testicular biopsy.


METHODS
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.


RESULTS
No mutations were detected in isolated cryptorchid men, idiopathic azoospermic men, or controls within the 5 exons of the 5alpha-reductase type 2 gene.


CONCLUSIONS
5Alpha-reductase type 2 gene abnormalities do not constitute a major factor in the development of cryptorchidism or idiopathic azoospermia.
Suzuki
Yasuhiro
Y
Department of Urology, Yamagata University School of Medicine, Yamagata, Japan.
Sasagawa
Isoji
I
Itoh
Keiichi
K
Ashida
Junko
J
Ogata
Tsutomu
T
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D042944:Cholestenone 5 alpha-Reductase; D003456:Cryptorchidism / Q000235:genetics*; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics; D010088:Oxidoreductases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013737:Testis / Q000166:cytology
D010088:Oxidoreductases; D042944:Cholestenone 5 alpha-Reductase