Genitourinary malformations associated with agenesis of the corpus callosum

Agenesis of the corpus callosum is an infrequent congenital anomaly that occurs in partial or complete forms, and is frequently associated with other craniofacial and skeletal abnormalities. An increased association with genitourinary abnormalities has not been previously defined. We reviewed the records of 22 boys and 11 girls with agenesis of the corpus callosum. Of the patients 18 had complete radiological or necroscopic evaluation and 15 had physical examinations as the sole means of evaluation. Renal anomalies were the most frequent genitourinary abnormalities identified in these children, although ureteral, genital and bladder abnormalities were also encountered. There was an exceptionally high incidence of undescended testes (23%), approximately 20-fold greater than the frequency in the normal population, possibly resulting from hypothalamic insufficiency associated with midline cranial defects. We suggest, therefore, that all patients with agenesis of the corpus callosum should be thoroughly evaluated with bladder and renal ultrasound studies to rule out any genitourinary abnormalities. Male patients with agenesis of the corpus callosum and undescended testes should undergo hypothalamic/pituitary axis testing.