Detailed Functional Studies On Androgen Receptor Mild Mutations Demonstrate Their Association With Male Infertility

Mutations in the androgen receptor (AR) gene can cause the androgen insensitivity syndrome (AIS). For complete and severe partial AIS well-characterized in vitro functional assays can be used for genotype-phenotype correlation, however for mild forms of AIS, as associated with male infertility, experimental evidence is scarce or lacking. In particular, optimal in vitro functional tests informative about the genotype phenotype relation have not been described. [click link for full article]

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Filed under: Fertility on December 2nd, 2007