Testicular
adrenal rest tumors (TARTs) are benign masses deemed to originate from pluripotent testicular steroidogenic cells that grow under chronic
ACTH stimulation. These lesions, occasionally misdiagnosed as Leydig cell
tumors (LCTs), are typically described in patients with
congenital adrenal hyperplasia (CAH).
X-linked adrenoleukodystrophy (
X-ALD) is an inherited disorder of beta-oxidation with accumulation of very long chain
fatty acids (VLCFAs) in various tissues, and a rare cause of
primary adrenal insufficiency (PAI). TARTs have never been associated with
X-ALD. CASE 1 DESCRIPTION: A 19-year old male, who had previously undergone bilateral enucleation of presumed LCTs, was referred to our unit. Follow-up scans showed persistent bilateral lesions compatible with TARTs. Biochemical exams revealed PAI but excluded CAH. A serum VLCFAs panel was consistent with
X-ALD, with gene testing confirming the diagnosis. Histological revision of the previously resected testicular lesions was compatible with TARTs. Start of
glucocorticoid replacement
therapy was associated with a reduction of testicular masses. CASE 2 DESCRIPTION: A 26-year old
X-ALD male was diagnosed with bilateral testicular lesions compatible with TARTs. These lesions increased after
ACTH elevation following switch to modified-release
hydrocortisone. Clinical and sonographic findings allowed for a "watchful-waiting" approach, avoiding unnecessary surgery.
CONCLUSION: These are the first cases reported of TARTs in patients with
X-ALD-associated PAI. Testicular lesions in patients with an early onset of
ACTH elevation, regardless of the cause, should always be thoughtfully investigated, as they may reveal themselves as TARTs. We suggest that all patients affected from chronic
ACTH elevation of a young age of onset should undergo testicular ultrasound in order to evaluate the presence of these lesions. GRT in these patients might also help preserving fertility.