Arch Androl 2002;48(6):461-466


Androgen Receptor Gene and Male Genital Anomaly.

Sasagawa I, Suzuki Y, Muroya K, Ogata T.

Department of Urology, Yamagata University School of Medicine,
Yamagata, Japan, and Department of Pediatrics, Keio University School
of Medicine, Tokyo, Japan.

Male sexual differentiation, testicular descent, and spermatogenesis
require androgens. Their action is mediated through the androgen
receptor (AR), which binds to the androgen responsive element on DNA
and regulates gene transcription. No mutations in any of the AR gene
exons 1-8 are detected in males with isolated cryptorchidism,
hypospadias, micropenis, or idiopathic male infertility. In addition,
the CAG repeat length in exon 1 of the AR gene does not expand in
males with isolated cryptorchidism, hypospadias, micropenis, or
idiopathic male infertility. These facts indicate that an alteration
of the AR gene is rare in these males. However, further studies will
permit a better clarification on the relevance of the AR gene
abnormalities to the development of isolated cryptorchidism,
hypospadias, micropenis, or impaired spermatogenesis.

PMID: 12425763 [PubMed - as supplied by publisher]


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