Androgen receptor gene and male genital anomaly.

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.