Adrenocortical adenoma associated with inadequately treated congenital adrenal hyperplasia

• Published in: Journal of pediatric endocrinology & metabolism : JPEM Vol. 16; no. 9; p. 1311
• Main Authors: Kurtoğlu, Selim, Atabek, M Emre, Keskin, Mehmet, Patiroglu, Tahir Ercan
• Format: Journal Article
• Language: English
• Published: Germany 01-12-2003
• Subjects: 17-alpha-Hydroxyprogesterone - blood; Adrenal Hyperplasia, Congenital - complications; Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - drug therapy; Adrenocortical Adenoma - complications; Adrenocortical Adenoma - surgery; Adrenocortical Adenoma - ultrastructure; Adrenocorticotropic Hormone - pharmacology; Androstenedione - blood; Child; Dehydroepiandrosterone Sulfate - blood; Drug Administration Schedule; Glucocorticoids - therapeutic use; Hair - growth & development; Humans; Hydrocortisone - therapeutic use; Hydroxyprogesterones - blood; Hydroxyprogesterones - pharmacology; Male; Mixed Function Oxygenases - blood; Mixed Function Oxygenases - deficiency; Mixed Function Oxygenases - genetics; Patient Compliance; Steroid 21-Hydroxylase - blood; Steroid 21-Hydroxylase - genetics; Testosterone - blood; Treatment Failure; Virilism - diagnosis; Virilism - rehabilitation
• ISSN: 0334-018X
• DOI: 10.1515/JPEM.2003.16.9.1311

We report a 6 year-old boy with the simple virilizing form of 21-hydroxylase deficiency in whom an adrenal adenoma developed following 5 years of steroid treatment. Extremely high levels of basal serum 17alpha-hydroxyprogesterone as well as an exaggerated response of 17alpha-hydroxyprogesterone to adrenocorticotropic hormone confirmed congenital adrenal hyperplasia at 7 years of age. Initially elevated serum steroid levels were restrained by high dose hydrocortisone therapy, but he chronically tended to take inadequate doses of glucocorticoid. At 12 years of age an adenoma was found in the cortex of the hyperplastic right adrenal gland. The importance of early diagnosis and compliance with medication in the simple virilizing form of 21-hydroxylase deficiency is stressed.