Journal of Ultrasound in Medicine, Vol 7, Issue 12 675-679, Copyright © 1988 by American Institute of Ultrasound in Medicine
Ultrasound findings in the adreno-genital syndrome (congenital adrenal hyperplasia)
P. J. Bryan, A. A. Caldamone, S. C. Morrison, B. S. Yulish and R. Owens
Department of Radiology, the Case Western Reserve University, University Hospitals of Cleveland, OH 44106.
The adreno-genital syndrome (congenital adrenal hyperplasia) is caused by
deficiency of an enzyme (usually C-21 hydroxylase) necessary for adrenal
production of cortisol, which results in excessive accumulation of
androgenic precursors. It is the most common cause of female
pseudohermaphroditism. There have been a few sporadic reports of ultrasonic
demonstration of enlarged adrenals in the adreno-genital syndrome. To
determine whether ultrasonography could be used to establish or exclude the
diagnosis, ultrasonic examinations were performed on eight newborn infants
with ambiguous genitalia who were subsequently proven to have the
adreno-genital syndrome. The adrenals were found to be enlarged in three
patients, at the upper limit of normal in three patients, and in two
infants the adrenals were well within normal limits in size. The uterus was
identified in seven of the eight patients, but was not seen for technical
reasons in one. It is concluded that ultrasound is useful in the evaluation
of infants with congenital adrenal hyperplasia to establish the presence of
a uterus and to demonstrate enlargement of the adrenals, but it should be
cautioned that finding adrenals of normal size does not exclude the
diagnosis. Key words ultrasound, adreno-genital syndrome, congenital
adrenal hyperplasia.
