Testicular regression in a patient with virilized female phenotype.

The 16-year old girl studied here had ambiguous external genitalia, ie, enlarged clitoris, pseudo vagina, and rudiments of Wolffian tubes. Her karyotype was 46,XY and she was H-Y antigen-positive. In spite of absence of gonadal tissue, genital virilization suggests presence of testes during embryogenesis. This patient is compared to 20 others with testicular regression from the literature. Autosomal-recessive inheritance of this condition is proposed.