Ann Pediatr Endocrinol Metab.  2015 Sep;20(3):155-161. 10.6065/apem.2015.20.3.155.

Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia

Affiliations
  • 1Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea. kimho@yuhs.ac
  • 2Department of Pediatrics, Sohwa Children's Hospital, Seoul, Korea.

Abstract

PURPOSE
In male patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumors (TARTs) have been reported, however their prevalence and clinical manifestations are not well known. Untreated TARTs may lead to testicular structural damage and infertility. This study was conducted to investigate the prevalence of TARTs in male patients with CAH, and characterize the manifestations to identify contributing factors to TART.
METHODS
Among 102 CAH patients aged 0-30 years, 24 male patients have been regularly followed up in our outpatient clinic at Severance Children's Hospital from January 2000 to December 2014. In order to reveiw the characteristics of TART patients, we calculated the mean levels of hormones during the 5 years before the time of investigation. Five patients underwent follow-up scrotal ultrasonography (US) after adjusting the dosage of glucocorticoids.
RESULTS
TARTs were detected in 8 of the 13 patients (61.5%). The median age of TARTs diagnosis was 20.2 years with the youngest case being 15.5 years old. The mean serum level of adrenocorticotropic hormone (ACTH) was higher in the TARTs patient group compared to the non-TARTs group (P<0.05). The tumor size decreased in 3 cases, slightly increased in 1 case, and had no change in another case.
CONCLUSION
The serum ACTH level might be associated with the growth promoting factor for TARTs, but the exact mechanism has not been clearly identified. Screening for TARTs using US is important in male patients with CAH for early-detection and prevention of ongoing complications, such as infertility.

Keyword

Congenital adrenal hyperplasia; Adrenal rest tumor; Adrenocorticotropic hormone

MeSH Terms

Adrenal Hyperplasia, Congenital*
Adrenal Rest Tumor*
Adrenocorticotropic Hormone
Ambulatory Care Facilities
Diagnosis
Follow-Up Studies
Glucocorticoids
Humans
Infertility
Male*
Mass Screening
Prevalence
Ultrasonography
Adrenocorticotropic Hormone
Glucocorticoids

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Reference

1. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010; 95:4133–4160. PMID: 20823466.
Article
2. Valentino R, Savastano S, Tommaselli AP, Scarpitta MT, Dorato M, Gigante M, et al. Success of glucocorticoid replacement therapy on fertility in two adult males with 21-CAH homozygote classic form. J Endocrinol Invest. 1997; 20:690–694. PMID: 9492111.
Article
3. Sahakitrungruang T. Clinical and molecular review of atypical congenital adrenal hyperplasia. Ann Pediatr Endocrinol Metab. 2015; 20:1–7. PMID: 25883920.
Article
4. Claahsen-van der Grinten HL, Stikkelbroeck NM, Sweep CG, Hermus AR, Otten BJ. Fertility in patients with congenital adrenal hyperplasia. J Pediatr Endocrinol Metab. 2006; 19:677–685. PMID: 16789634.
5. Reisch N, Flade L, Scherr M, Rottenkolber M, Pedrosa Gil F, Bidlingmaier M, et al. High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2009; 94:1665–1670. PMID: 19258407.
Article
6. Stikkelbroeck NM, Otten BJ, Pasic A, Jager GJ, Sweep CG, Noordam K, et al. High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2001; 86:5721–5728. PMID: 11739428.
Article
7. Larson CP, Reberger CC. Macrogenitosomia precox with adrenal hyperplasia and bilateral heterotopic adrenal cortical tissue of the testes. West J Surg Obstet Gynecol. 1954; 62:602–606. PMID: 13217257.
8. Jin HY, Choi JH, Kim GH, Lee CS, Yoo HW. Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia. Korean J Pediatr. 2011; 54:137–140. PMID: 21738545.
Article
9. Avila NA, Premkumar A, Merke DP. Testicular adrenal rest tissue in congenital adrenal hyperplasia: comparison of MR imaging and sonographic findings. AJR Am J Roentgenol. 1999; 172:1003–1006. PMID: 10587136.
Article
10. Willi U, Atares M, Prader A, Zachmann M. Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: detection by ultrasonography. Pediatr Radiol. 1991; 21:284–287. PMID: 1870928.
Article
11. Cabrera MS, Vogiatzi MG, New MI. Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2001; 86:3070–3078. PMID: 11443169.
Article
12. Claahsen-van der Grinten HL, Hermus AR, Otten BJ. Testicular adrenal rest tumours in congenital adrenal hyperplasia. Int J Pediatr Endocrinol. 2009; 2009:624823. PMID: 19956703.
13. Barwick TD, Malhotra A, Webb JA, Savage MO, Reznek RH. Embryology of the adrenal glands and its relevance to diagnostic imaging. Clin Radiol. 2005; 60:953–959. PMID: 16124976.
Article
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; 16:263–267. PMID: 11157817.
Article
15. 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; 92:3674–3680. PMID: 17595257.
Article
16. Avila NA, Premkumar A, Shawker TH, Jones JV, Laue L, Cutler GB Jr. Testicular adrenal rest tissue in congenital adrenal hyperplasia: findings at Gray-scale and color Doppler US. Radiology. 1996; 198:99–104. PMID: 8539414.
Article
17. Martinez-Aguayo A, Rocha A, Rojas N, García C, Parra R, Lagos M, et al. Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2007; 92:4583–4589. PMID: 17895312.
Article
18. Aycan Z, Bas VN, Cetinkaya S, Yilmaz Agladioglu S, Tiryaki T. Prevalence and long-term follow-up outcomes of testicular adrenal rest tumours in children and adolescent males with congenital adrenal hyperplasia. Clin Endocrinol (Oxf). 2013; 78:667–672. PMID: 23057653.
Article
19. Cakir ED, Mutlu FS, Eren E, Pasa AO, Saglam H, Tarim O. Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia. J Clin Res Pediatr Endocrinol. 2012; 4:94–100. PMID: 22672867.
Article
20. Tanner JM, Whitehouse RH. Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. Arch Dis Child. 1976; 51:170–179. PMID: 952550.
Article
21. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003; 349:776–788. PMID: 12930931.
Article
22. 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; 13:1597–1603. PMID: 12835972.
Article
23. Vanzulli A, DelMaschio A, Paesano P, Braggion F, Livieri C, Angeli E, et al. Testicular masses in association with adrenogenital syndrome: US findings. Radiology. 1992; 183:425–429. PMID: 1561344.
Article
24. Avila NA, Shawker TS, Jones JV, Cutler GB Jr, Merke DP. Testicular adrenal rest tissue in congenital adrenal hyperplasia: serial sonographic and clinical findings. AJR Am J Roentgenol. 1999; 172:1235–1238. PMID: 10227495.
Article
25. Claahsen-van der Grinten HL, Sweep FC, Blickman JG, Hermus AR, Otten BJ. Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol. 2007; 157:339–344. PMID: 17766717.
Article
26. Pierre P, Despert F, Tranquart F, Coutant R, Tardy V, Kerlan V, et al. Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients. Ann Endocrinol (Paris). 2012; 73:515–522. PMID: 23131470.
Article
27. Claahsen-van der Grinten HL, Dehzad F, Kamphuis-van Ulzen K, de Korte CL. Increased prevalence of testicular adrenal rest tumours during adolescence in congenital adrenal hyperplasia. Horm Res Paediatr. 2014; 82:238–244. PMID: 25195868.
Article
28. Val P, Jeays-Ward K, Swain A. Identification of a novel population of adrenal-like cells in the mammalian testis. Dev Biol. 2006; 299:250–256. PMID: 16949566.
Article
29. Clark RV, Albertson BD, Munabi A, Cassorla F, Aguilera G, Warren DW, et al. Steroidogenic enzyme activities, morphology, and receptor studies of a testicular adrenal rest in a patient with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1990; 70:1408–1413. PMID: 2335578.
Article
30. Stikkelbroeck NM, Hermus AR, Suliman HM, Jager GJ, Otten BJ. Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years. J Pediatr Endocrinol Metab. 2004; 17:645–653. PMID: 15198296.
Article
31. Claahsen-van der Grinten HL, Otten BJ, Sweep FC, Hermus AR. Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors. Fertil Steril. 2007; 88:705.e5–705.e8. PMID: 17517401.
32. Bonaccorsi AC, Adler I, Figueiredo JG. Male infertility due to congenital adrenal hyperplasia: testicular biopsy findings, hormonal evaluation, and therapeutic results in three patients. Fertil Steril. 1987; 47:664–670. PMID: 3032693.
Article
33. Benvenga S, Smedile G, Lo Giudice F, Trimarchi F. Testicular adrenal rests: evidence for luteinizing hormone receptors and for distinct types of testicular nodules differing for their autonomization. Eur J Endocrinol. 1999; 141:231–237. PMID: 10474120.
Article
34. Poyrazoglu S, Saka N, Agayev A, Yekeler E. Prevalence of testicular microlithiasis in males with congenital adrenal hyperplasia and its association with testicular adrenal rest tumors. Horm Res Paediatr. 2010; 73:443–448. PMID: 20407230.
Article
35. Sha YW, Song YQ, Zheng LK, Ma XM, Yang D, Huang P, et al. Congenital adrenal hyperplasia complicated by testicular adrenal rest tumors: one-case clinical analysis. Zhonghua Nan Ke Xue. 2010; 16:816–821. PMID: 21171267.
36. Mouritsen A, Juul A, Jørgensen N. Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours. Int J Androl. 2010; 33:518–520. PMID: 19281490.
Article
37. Claahsen-van der Grinten HL, Otten BJ, Takahashi S, Meuleman EJ, Hulsbergen-van de Kaa C, Sweep FC, et al. Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients. J Clin Endocrinol Metab. 2007; 92:612–615. PMID: 17090637.
Article
38. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000; 21:245–291. PMID: 10857554.
Article
39. Hughes IA. Congenital adrenal hyperplasia: a lifelong disorder. Horm Res. 2007; 68(Suppl 5):84–89. PMID: 18174717.
Article
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