Female pseudohermaphroditism and associated anomalies

A patient was observed with female pseudohermaphroditism (FPH) and the "Prune Belly Syndrome" (PBS) - abdominal muscle hypoplasia and urinary tract abnormalities - findings seen in three previously reported cases. A review of cases of FPH with additional anomalies suggests a spectrum of primary, and possibly derived, malformations with Prune Belly Syndrome at one extreme. These findings can best be understood as disturbance of a specific embryological developmental field of which FPH is a marker, although not an invariable expression. The field includes anorectal, urogenital, sacral-spinal, and ventral wall structures. FPH is a rare manifestation, and the cases reviewed suggest that it can appear as a developmental anomaly without apparent hormonal trigger. Malformations of this field are understandable on the basis of a multifactorial model, with male sex as a predisposing factor. The caudal defects of the cryptophthalmos syndrome offer a paradigm for a spectrum of field anomalies.