Late-diagnosed Nonclassical 21-hydroxylase Deficiency in Two Elderly Men with Adrenal Incidentalomas: Clinical Clues to the Underlying Diagnosis.

Nonclassical 21-hydroxylase deficiency (21-OHD) is a mild form of congenital adrenal hyperplasia (CAH) that may remain unrecognized until adulthood. We herein report two elderly men with undiagnosed nonclassical 21-OHD and different adrenal morphologies. Case 1 had a large unilateral adrenal tumor, and an inadequate residual adrenal function became apparent after adrenalectomy, while Case 2 showed bilateral adrenal enlargement. Both patients had a short stature. Because newborn screening for CAH has been available in Japan for less than 40 years, an evaluation of adrenal insufficiency, in addition to hormonal excess, may help to identify latent 21-OHD, thereby allowing for the administration of appropriate management in elderly men with adrenal incidentalomas.