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Development of the male genitalia is largely controlled by cells in the urogenital mesenchyme that express androgen receptors (AR) [ 1 2 ] . Germline mutations of the AR gene produce a spectrum of developmental abnormalities in 46,XY individuals ranging from infertility or mild hypospadias to complete feminization, which are collectively referred to as the androgen insensitivity syndrome (AIS).
Comparison of the expression patterns of genital fibroblasts from 46,XY normal males and 46,XY females with inactivated AR provides a window on the AR-dependent gene-expression programs within the urogenital mesenchyme, which contribute to the development and structural integrity of male and female genitalia.
As cultured genital fibroblasts originate from the urogenital mesenchyme and retain expression of the AR in vitro , we compared gene-expression patterns in cultured genital fibroblasts from normal 46,XY males and from 46,XY females with severe or complete AIS, using DNA microarrays representing 32,968 distinct human genes.
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Nearly all mammals have the XX female and XY male system, with XXY individuals being male and Xo individuals female.