Adrenocortical tumor in a patient with untreated congenital adrenocortical hyperplasia owing to 21-hydroxylase deficiency: characterization of steroidogenic lesions

Abstract

We report a case of congenital adrenal hyperplasia complicated by a right adrenal adenoma. The congenital adrenal hyperplasia was confirmed by extremely high levels of basal serum 17 alpha-hydroxy-progesterone and urinary pregnantriol as well as an exaggerated response of 17 alpha-hydroxyprogesterone to adrenocorticotropic hormone. On roentogenographic examinations and an echogram a huge calcified tumor was seen in the right adrenal gland. Histological findings indicated an adrenocortical adenoma. Culture of the tumor cells showed an accentuated response in the ratio of 17 alpha-hydroxy-progesterone to desoxycortisol with adrenocorticotropic hormone as a stimulator, suggesting that such adenoma cells also lack 21-hydroxylase activity. Our study clearly demonstrates that tumor cells have the same steroidogenic lesions as hyperplasia.