Agonadism in a 46,XY patient with CHARGE association.

We report on an infant girl born with findings of CHARGE association who proved to be a genetic male (46,XY) on cytogenetic study. Further investigation of the genitalia demonstrated partially female internal organs but absence of gonads by ultrasonography, hormone studies, and absence of ZFY by DNA probe of Yp. Pelvic exploration confirmed lack of gonadal tissue and uterus. Facial phenotype was compatible with CHARGE appearance.