Female pseudohermaphrodism with penile urethra, masquerading as precocious puberty and cryptorchidism; case report.

Abstract

Female pseudohermaphrodism is characterized by varying degrees of masculinization of wolffian and mullerian derivatives, present at birth, in a gonadal female. Subsequently, other somatic and secondary sexual characteristics deviate toward the masculine and may appear precociously. Typically, the female pseudohermaphrodite at birth has an enlarged nonperforate phallus with a single opening (urogenital sinus) at its base, large, empty scrotum-like labia majora and absent or vestigial labia minora. The urethra and a short vagina open into the urogenital sinus. The cervix, uterus, tubes and ovaries may be fully or incompletely developed. Prostatic elements may be present. Such a combination of virilization and relatively obvious developmental abnormalities of the external genitalia will, on clinical grounds, indicate the necessity of differentiating a female pseudohermaphrodite from a hypospadiac male with sexual precocity and cryptorchidism.