Ambiguous genitalia: comparative role of pelvic ultrasonography and genitography

Ambiguous genitalia represents a true medical and social emergency which needs a multi-disciplinary team approach for elucidation. The paediatric radiologist plays an important role in defining the genital anatomy which remains one of the most important factors in sex determination. Aiming to compare the predictive value of pelvic ultrasonography and genitography in sex determination in patients with ambiguous genitalia, we retrospectively reviewed the medical records of 69 patients, 53 females and 16 males, where both procedures were employed. In female pseudohermaphroditism, the presence of a uterus with or without vagina was predicted in 46 (86.8%) patients by ultrasound compared with 44 (83%) patients in whom a genitogram revealed a vagina +/- uterus. In six (11.3%) patients, a genitogram revealed a male-type urethra. The combination of ultrasound and genitogram, however, was more sensitive and predicted the presence of a uterus with or without vagina in 52 (98.1%) patients. In male pseudo-hermaphroditism, there was no false positive by ultrasound, and a genitogram revealed a male-type urethra in 12 (75%) patients. In conclusion, although real time pelvic ultrasonography is less invasive than genitography, its yield in elucidating genital anatomy is comparable. The combination of both procedures is more informative and has a better yield.