Unilateral testicular enlargement resulting from inapparent 21-hydroxylase deficiency.
We report a case in which unilateral testicular enlargement was the only presenting sign in 21-hydroxylase deficiency of the "acquired" or adult onset type. Measurement of plasma 17-hydroxyprogesterone throughout 24 hours revealed marked elevations, mostly between 0400 and 0700 hours. However, this steroid increased more than 18-fold 30 minutes following adrenocorticotropic hormone administration, confirming the diagnosis. Glucocorticoid therapy corrected the testicular enlargement. Inapparent 21-hydroxylase deficiency is a medically treatable cause of testicular enlargement that can be diagnosed by measurement of plasma 17-hydroxyprogesterone during a 30-minute adrenocorticotropic hormone stimulation test.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D000324:Adrenocorticotropic Hormone; D000328:Adult; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D008297:Male; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013733:Testicular Diseases / Q000175:diagnosis*
D006908:Hydroxyprogesterones; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases