Testicular adrenal rest "tumor" or Leydig cell tumor? A report of a challenging case with literature review

Abstract

Congenital adrenal hyperplasia (CAH) refers to group of inherited diseases resulting from impaired adrenal steroidogenesis, and its most common cause is 21-hydroxylase deficiency. Testicular adrenal rest tumors (TARTs) are an important complication of CAH, which probably develop from ectopic remnants of intra-testicular adrenal tissue stimulated by Adrenocorticotropic hormone (ACTH) hypersecretion. These lesions are typically located within the rete testis and are bilateral, synchronous, nodular and multiple. TART usually, but not always, responses to suppressive medical therapy. TART leads to testicular structural damage, spermatogenesis disorders, infertility and most importantly, mass-forming lesions that could be mistaken for Leydig cell tumor (LCT). The later has a significantly different behavior with up to 10% of being malignant. Nowadays, due to advances in diagnosing and treating CAH, mass-forming TART is rarely encountered. As a result, there is the paucity in the medical literature regarding its features from pathological perspective. We herein present a case of mass-forming TART and we discuss the clinical, radiological, and morphological features as well as the major differential diagnosis of this rare lesion.

Keywords

Leydig cell tumor - testicular adrenal rest tumor - testicular mass

Publikationsverlauf

Artikel online veröffentlicht:
09. August 2021

• References

• 1 Wang Z, Yang S, Shi H, Du H, Xue L, Wang L, et al. Histopathological and immunophenotypic features of testicular tumour of the adrenogenital syndrome. Histopathology 2011;58:1013 8.
• 2 Charfi N, Kamoun M, Feki Mnif M, Mseddi N, Mnif F, Kallel N, et al. Leydig cell tumor associated with testicular adrenal rest tumors in a patient with congenital adrenal hyperplasia due to 11βHydroxylase Deficiency. Case Rep Urol 2012;2012:648643.
• 3 Wilkins L, Fleischmann W, Howard JE. Macrogenitosomia precox associated with hyperplasia of the androgenic tissue of the adrenal and death from corticoadrenal insufficiency. Endocrinology 1940;26:385 95.
• 4 Lee D, Rodgers SK. Testicular adrenal rests. Ultrasound Q 2008;24:105 7.
• 5 Budzy?ska E, Be? Skowronek I. Testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: Case report and literature review. Pediatr Endocrinol Diabetes Metab 2011;17:239 42.
• 6 Barwick TD, Malhotra A, Webb JA, Savage MO, Reznek RH. Embryology of the adrenal glands and its relevance to diagnostic imaging. Clin Radiol 2005;60:953 9.
• 7 Val P, Jeays Ward K, Swain A. Identification of a novel population of adrenal like cells in the mammalian testis. Dev Biol 2006;299:250 6.
• 8 Paner GP, Kristiansen G, McKenney JK, Amin MB. Rete testis associated nodular steroid cell nests: Description of putative pluripotential testicular hilus steroid cells. Am J Surg Pathol 2011;35:505 11.
• 9 Claahsen van der Grinten HL, Otten BJ, Stikkelbroeck MM, Sweep FC, Hermus AR. Testicular adrenal rest tumours in congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab 2009;23:209 20.
• 10 Emerson RE, Ulbright TM. Morphological approach to tumours of the testis and paratestis. J Clin Pathol 2007;60:866 80.
• 11 Unuvar T, Demir K, Abaci A, Atas A, Cakmakci H, Bober E. A 2 year old boy with a testicular mass. Diagnosis: Testicular tumor of adrenogenital syndrome due to 11 beta hydroxylase deficiency. Pediatr Ann 2010;39:471 4.
• 12 Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003;349:776 88.
• 13 Mirzaei MR, Rezvanian H, Siavash M, Parham M, Mahzouni P. A patient with refractory testicular adrenal rest tumour in the setting of cyp11b1 deficiency congenital adrenal hyperplasia. BMJ Case Rep 2009;2009.
• 14 Murphy H, George C, de Kretser D, Judd S. Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: Case report. Hum Reprod 2001;16:263 7.
• 15 Claahsen van der Grinten HL, Otten BJ, Hermus AR, Sweep FC, Hulsbergen van de Kaa CA. Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage. Fertil Steril 2008;89:597 601.
• 16 Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ. Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: Sonographic and MR features. Eur Radiol 2003;13:1597 603.
• 17 Claahsen van der Grinten HL, Otten BJ, Sweep FC, Span PN, Ross HA, Meuleman EJ, et al. Testicular tumors in patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency show functional features of adrenocortical tissue. J Clin Endocrinol Metab 2007;92:3674 80.
• 18 Ashley RA, McGee SM, Isotaolo PA, Kramer SA, Cheville JC. Clinical and pathological features associated with the testicular tumor of the adrenogenital syndrome. J Urol 2007;177:546 9.
• 19 Tazi MF, Mellas S, El Fassi MJ, Farih MH. Leydig cell hyperplasia revealed by gynecomastia. Rev Urol 2008;10:164 719.
• 20 Santoriello A, Benevento R, Petronella P, Perna G, Canonico S. Congenital adrenal hyperplasia and Leydig cell tumor of testis. Case report and review of literature. Ann Ital Chir 2010;81:445 8.
• 21 Entezari P, Kajbafzadeh AM, Mahjoub F, Vasei M. Leydig cell tumor in two brothers with congenital adrenal hyperplasia due to 11 β hydroxylase deficiency: A case report. Int Urol Nephrol 2012;44:133 7.