Acute adrenal crisis after orchiectomy for testicular adrenal rest tumors in untreated congenital adrenal hyperplasia

Abstract

A 22-year-old man with untreated congenital adrenal hyperplasia (CAH) developed an acute adrenal crisis following bilateral orchiectomy for testicular adrenal rest tumors. The patient survived into adulthood without treatment until progressive testicular masses led to surgery due to misinterpretation of malignancy. Eighteen days postoperatively, he presented with severe asthenia, hyponatremia, and hyperkalemia. Diagnostic evaluation revealed markedly elevated 17-hydroxyprogesterone, androstenedione, and adrenocorticotropic hormone levels, with bilateral adrenal hyperplasia on imaging. Genetic testing identified a homozygous pathogenic variant in the CYP21A2 gene. Following glucocorticoid and mineralocorticoid replacement, the patient achieved clinical stability. This case illustrates that surgical removal of testicular adrenal rest tumors in untreated individuals can precipitate severe acute adrenal insufficiency, highlighting these tumors as a critical sentinel finding for late-diagnosis congenital adrenal hyperplasia.