Feminizing genitoplasty for treatment of XX male with masculine genitalia.

XX male is a kind of sexual differentiation disorder that affects one out of every 20,000 to 25,000 male births. The patients have male phenotypes with female chromosomes, the karyotype 46XX. More than 150 XX males have been reported in the medical literature since Albert de la Chapelle first reported a male human with a pure XX sex chromosome constitution in 1964.1,2 Most patients with this condition have fully developed masculine genitalia with or without testes, and sexual ambiguity is rarely seen. Usually, patients appear male, are brought up as male, and have male orientation psychosexually. The hypothetical Y chromosomal gene(s) responsible for testis determination was named TDF, for testis determining factor, and later a crucial gene was identified on the human Y chromosome and termed SRY, for sex-determining region Y.3 It is said that sex reversal leading to testes in XX males is most often due to the presence of the SRY gene.4 The abnormality may arise during meiosis in the father, when an abnormal exchange leads to the transfer of the entire pseudoautosomal region plus a portion of the Y chromosome–specific region (including SRY) onto the X chromosome. However, advances in molecular genetics revealed another type of mechanism leading to XX sex reversal,5 and the etiology of this type of sexual differentiation disorder may be heterogeneous. We present the rare case of an XX male patient who was eager to live as a female and underwent surgery corresponding to a male-to-female transsexual operation (resection of the penis, repositioning of the urethra, and vaginal construction). As far as we know, this is the first report of an XX male patient who underwent feminizing genitoplasty.