Endocrine Abstracts

Introduction: Testicular adrenal rest tumours (TARTs) are a complication of congenital adrenal hyperplasia (CAH), stimulated by hyper-secretion of adrenocorticotropic hormone (ACTH). They are the main reason for fertility problems in men with CAH owing to compression of the seminiferous tubules, obstructive azoospermia and potentially permanent testicular damage. These lesions are benign and, in most patients present bilaterally. TARTs are treatable, but they can be misdiagnosed as Leydig cell tumours (LCTs) as the histopathological differentiation is difficult.

Clinical Case: We report a late diagnosis of non-classical 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in a 55-year-old gentleman. He was referred to endocrinology after finding an adrenal incidentaloma on MRI. Biochemical investigations into the nature of the adrenal lesion led to a surprising diagnosis of 21-hydroxylase deficiency CAH. His past medical history included bilateral orchidectomy for benign testicular Leydig cell tumours. There are reports in the literature of TARTs being misdiagnosed as LCTs and therefore, the patient’s histopathological specimens were re-examined. The diagnosis of LCTs was changed to TARTs.

Clinical lessons: It is well documented in the literature that TARTs in men with CAH are commonly mistaken for LCTs due to similarities in morphology. Recognition of this disease entity is important when evaluating testicular masses in men as early diagnosis could prevent irreversible testicular damage and infertility.

Reference: 1. Claahsen-van der Grinten HL, Otten BJ, Stikkelbroeck MM, Sweep FC, et al. Testicular adrenal rest tumours in congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metal 2009; 23: 209-220.