Exon 4

Association between male infertility and androgen receptor mutations in Brazilian patients

C. O. A. Melo, Danin, A. R., Silva, D. M., Tacon, J. A., Moura, K. K. V. O., Costa, E. O. A., and da Cruz, A. D., Association between male infertility and androgen receptor mutations in Brazilian patients, vol. 9, pp. 128-133, 2010.

The androgen receptor is encoded by a single-copy gene located in the long arm of the X chromosome (Xq11-12); it consists of eight exons and encodes an intracellular transcription factor that belongs to the steroid/nuclear receptor superfamily. Disturbances in the function of the androgen receptor can lead to several forms of male pseudohermaphroditism, such as androgen insensitivity syndrome, which can lead to infertility. Infertility affects around 20% of couples, and in half of the cases it is a male problem.

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