General Medical Information

Other Forms of Female Pseudohermaphroditism

Joe Leigh Simpson

Two siblings had clitoral hypertrophy, a single perineal orifice leading anteriorly to a urethra and posteriorly to a vagina, and numerous skeletal anomalies (hypoplasia of the mandible and maxilla, brachycephaly, narrow vertebral bodies, relatively long slender bones, dislocation of fusion of the radial heads leading to abnormal-appearing elbows, coxa valga, and phalangeal fusion of several toes). Müllerian derivatives and ovaries were normal. Both siblings developed breasts and pubic hair but failed to menstruate. Their parents were consanguineous; thus, autosomal recessive inheritance seems probable.

Female pseudohermaphroditism of unknown origin can be associated with one or more of the following anomalies: absence or duplication of the uterus; renal absence, duplication, or hydronephrosis; and imperforate anus. Short stature, mental retardation, deafness, ear and nasal malformation, and a blindly ending colon are less often associated; the ovaries usually are normal.

Genital abnormalities may result from maldevelopment of the genital tubercle, cloacal membrane, urogenital membrane, or the entire hind end of the embryo (i.e., caudal regression syndrome). In some of these malformations, the external genitalia may be so abnormal that the sex of rearing is in doubt. These rare disorders include exstrophy of the bladder, exstrophy of the cloaca, and sirenomelia.