Testicular adrenal rest tumors (TARTs) are presumably derived from ectopic adrenocortical tissue in the testis, affecting up to 49% to 94% of males with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Few reports have described TARTs in rarer forms of CAH such as 3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D). A man with 3βHSD2D presented with massive bilateral testicular tumors. He had been treated with glucocorticoids and mineralocorticoids since infancy, with difficulties in suppressing dehydroepiandrosterone sulfate. At the age of 13 years, bilateral testicular lumps were found, and a radiologic diagnosis of TARTs was proposed. Subsequent sonographic examinations showed progression, despite intensifying his glucocorticoid therapy with metabolic complications. Following an open testicular biopsy, concerns of a Leydig cell tumor and risk of malignant transformation were raised, and because the patient also had local symptoms and azoospermia, he underwent bilateral orchiectomy at age 33 years. Histopathology was consistent with bilateral TARTs, exhibiting widespread immunoreactivity for adrenocortical markers, whereas no histological features of Leydig cell tumors were seen. The distinction between TARTs and Leydig cell tumors is important but can be challenging, and in our case, orchiectomy was needed to rule out the latter diagnosis. TART should be considered a differential diagnosis also in patients with 3βHSD2D who have testicular lumps.
Keywords: 3β-hydroxysteroid dehydrogenase deficiency; congenital adrenal hyperplasia; fertility; sperm quality; testicular adrenal rest tumors.