December 1993

Adrenal Tumor Complicating Untreated 21-Hydroxylase Deficiency in a 5½-Year-Old Boy

Author Affiliations

From the Departments of Endocrinology (Drs Bhatia and Shukla), Surgical Endocrinology (Dr Mishra), and Radiology (Dr Gupta), Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow, India. Dr Shukla is now with the Post-Graduate Institute of Medical Sciences, Chandigarh, India.

Am J Dis Child. 1993;147(12):1321-1323. doi:10.1001/archpedi.1993.02160360063020

• Objective.  —A 5½-year-old boy presenting with virilization was diagnosed as having classic 21-hydroxylase deficiency complicated by an adrenal tumor. We attempted to document a reduction in the size of the tumor with glucocorticoid therapy.

Design.  —Case study.

Setting.  —Referral center.

Intervention.  —Glucocorticoid therapy was instituted for congenital adrenal hyperplasia. Surgery for the adrenal mass was deferred, and the size of the mass was monitored by serial ultrasonography.

Results.  —Baseline values of serum 17α-hydroxyprogesterone (186.6 nmol/L) and testosterone (24.7 nmol/L [7.1 ng/mL]) were elevated. After instituting steroid treatment, 17α-hydroxyprogesterone was suppressed (13.0 nmol/L), and testosterone remained undetectable on follow-up. However, the size of the mass increased during 6 months. Unilateral adrenalectomy performed at that time revealed a well-encapsulated adenoma in a hyperplastic gland.

Conclusions.  —Untreated classic congenital adrenal hyperplasia may be complicated by an adrenal tumor even at a young age. Suppression of adrenal androgens by glucocorticoid therapy was not accompanied by regression of the tumor in our patient.(AJDC. 1993;147:1321-1323)