Skip to main content

Macroorchidisms Secondary to Functioning Tumors during Childhood

  • Chapter
  • First Online:
  • 1101 Accesses

Abstract

The following tumors can produce precocious pseudopuberty: Leydig cell tumor, sex cord tumors (large cell hyalinizing Sertoli cell tumor and Sertoli cell tumor with large calcifications), virilizing carcinoma of the adrenal cortex, and extratesticular hCG-secreting tumor. The testicular size, the uni- or bilateral nature of the lesions, and the mechanism of testicular enlargement are highly variable from case to case. The Leydig cell tumors are those that have larger size at presentation followed by the sex cord tumors. In the remaining tumors, testicular enlargement is very discreet. Leydig cell tumors also have another peculiarity; they are usually unilateral, with no changes in the contralateral testicle. In most other cases, the lesions are bilateral. The testicular enlargement occurs not only because of the tumor mass but, and this may be even more important, due to the induced maturation of those seminiferous tubules in close proximity with the tumor caused by hormone production by tumor cells. Sex cord tumors are often associated with syndromes such as Peutz-Jeghers or the Carney complex.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Nistal M, González-Peramato P, Paniagua R. Congenital Leydig cell hyperplasia. Histopathology. 1988;12:307–17.

    Article  CAS  PubMed  Google Scholar 

  2. Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, Moreno F, Bereket A, Akcay T, García-García E, Muñoz MT, Gracia R, Nistal M, Castaño L, Mullis PE, Carrascosa A, Audí L, Flück CE. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J Clin Endocrinol Metab. 2012;97:E1294–306.

    Article  CAS  PubMed  Google Scholar 

  3. Holland FJ. Gonadotropin-independent precocious puberty. Endocrinol Metab Clin North Am. 1991;20:191–210.

    CAS  PubMed  Google Scholar 

  4. Wilson BE, Netzloff ML. Primary testicular abnormalities causing precocious puberty Leydig cell tumor, Leydig cell hyperplasia, and adrenal rest tumor. Ann Clin Lab Sci. 1983;13:315–20.

    CAS  PubMed  Google Scholar 

  5. Pohl HG, Shukla AR, Metcalf PD, Cilento BG, Retik AB, Bagli DJ, Huff DS, Rushton HG. Prepubertal testis tumors: actual prevalence rate of histological types. J Urol. 2004;172:2370–2.

    Article  PubMed  Google Scholar 

  6. Gracia R, Nistal M, Gallego ME, Lledo G, Oliver A, Utrilla J, Gancedo P. Tumor de células de Leydig con pseudopubertad precoz. An Esp Pediatr. 1980;13: 593–8.

    CAS  PubMed  Google Scholar 

  7. Kim I, Young RH, Scully RE. Leydig cell tumors of the testis: a clinico-pathological analysis of 40 cases and review of the literature. Am J Surg Pathol. 1985;9:177–92.

    Article  CAS  PubMed  Google Scholar 

  8. Polepalle SK, Shabaik A, Alagiri M. Leydig cell tumor in a child with spermatocyte maturation and no pseudoprecocious puberty. Urology. 2003;62:551vi–551vii.

    Article  Google Scholar 

  9. O’Grady MJ, McGrath N, Quinn FM, Capra ML, McDermott MB, Murphy NP. Spermatogenesis in a prepubertal boy. J Pediatr. 2012;161:369–369.e1.

    Article  PubMed  Google Scholar 

  10. Alonso Domínguez FJ, Osorio Acosta VA. Leydig cell tumor presenting as precocious pseudopuberty in a 4-year-old boy. Arch Esp Urol. 2004;57:426–8.

    PubMed  Google Scholar 

  11. Scully RE. Testicular tumors with endocrine manifestations. In: De Groot LJ, editor. Endocrinology. Philadelphia: Saunders WB; 1995. p. 2442–8.

    Google Scholar 

  12. Naughton CK, Nadler RB, Basler JW, Humphrey PA. Leydig cell hyperplasia. Br J Urol. 1998;81:282–9.

    Article  CAS  PubMed  Google Scholar 

  13. Liu G, Duranteau L, Carel JC, Monroe J, Doyle DA, Shenker A. Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. N Engl J Med. 1999;341:1731–6.

    Article  CAS  PubMed  Google Scholar 

  14. Canto P, Söderlund D, Ramón G, Nishimura E, Méndez JP. Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors. Am J Med Genet. 2002;108:148–52.

    Article  PubMed  Google Scholar 

  15. Leung AC, Kogan SJ. Focal lobular spermatogenesis and pubertal acceleration associated with ipsilateral Leydig cell hyperplasia. Urology. 2000;56:508–9.

    Article  CAS  PubMed  Google Scholar 

  16. Tazi MF, Mellas S, El Fassi MJ, Farih MH. Leydig cell hyperplasia revealed by gynecomastia. Rev Urol. 2008;10:164–7.

    PubMed  PubMed Central  Google Scholar 

  17. Sato K, Ueda Y, Sakurai A, Ishikawa Y, Okamoto SY, Ikawa H, Katsuda S. Large cell calcifying Sertoli cell tumor of the testis: comparative immunohistochemical study with Leydig cell tumor. Pathol Int. 2005;55:366–71.

    Article  PubMed  Google Scholar 

  18. Slama A, Elleuch A, Yacoubi MT, Ben Sorba N, Mosbah AT. Bilateral Leydig cell tumor of the test: a case report. Ann Urol (Paris). 2003;37:213–6.

    Article  Google Scholar 

  19. Konrad D, Schoenle EJ. Ten-year follow-up in a boy with Leydig cell tumor after selective surgery. Horm Res. 1999;51:96–100.

    CAS  PubMed  Google Scholar 

  20. Henderson CG, Ahmed AA, Sesterhenn I, Belman AB, Rushton HG. Enucleation for prepubertal Leydig cell tumor. J Urol. 2006;176:703–5.

    Article  PubMed  Google Scholar 

  21. Berensztein E, Belgorosky A, De Davila MTG, Rivarola MA. Testicular steroid biosynthesis in a boy with a large cell calcifying Sertoli cell tumor producing prepubertal gynecomastia. Steroids. 1995;60:220–5.

    Article  CAS  PubMed  Google Scholar 

  22. Diamond Jr FB, Root AW, Hoover DL, Monteforte H. Hetero- and isosexual pseudoprecocity associated with testicular sex-cord tumors in an 8 year-old male. J Pediatr Endocrinol Metab. 1996;9:407–14.

    Article  PubMed  Google Scholar 

  23. Coen P, Kulin H, Ballantine T, Zaino R, Frauenhoffer E, Boal D, Inkster S, Brodie A, Santen R. An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia. N Engl J Med. 1991;324:317–22.

    Article  CAS  PubMed  Google Scholar 

  24. Ros P, Nistal M, Alonso M, Calvo de Mora J, Yturriaga R, Barrio R. Sertoli cell tumour in a boy with Peutz-Jeghers syndrome. Histopathology. 1999;34:84–6.

    Article  CAS  PubMed  Google Scholar 

  25. Ulbright TM, Amin MB, Young RH. Intratubular large cell hyalinizing Sertoli cell neoplasia of the testis: a report of 8 cases of a distinctive lesion of the Peutz-Jeghers syndrome. Am J Surg Pathol. 2007;31:827–35.

    Article  PubMed  Google Scholar 

  26. Carney JA. Carney complex: the complex of mixomas, spotty pigmentation, endocrine overactivity, and Schwanomas. Semin Dermatol. 1995;14:90–8.

    Article  CAS  PubMed  Google Scholar 

  27. Sipayya V, Yadav YK, Arora R, Sharma U, Gupta K. Virilizing adrenocortical carcinoma in a child: a rare enigma. Indian J Endocrinol Metab. 2012;16:621–3.

    Article  PubMed  PubMed Central  Google Scholar 

  28. Wieneke JA, Thompson LD, Heffess CS. Adrenal cortical neoplasms in the pediatric population: a clinicopathologic and immunophenotypic analysis of 83 patients. Am J Surg Pathol. 2003;27:867–81.

    Article  PubMed  Google Scholar 

  29. Bonfig W, Bittmann I, Bechtold S, Kammer B, Noelle V, Arleth S, Raile K. Virilising adrenocortical tumours in children. Eur J Pediatr. 2003;162:623–8.

    Article  PubMed  Google Scholar 

  30. Drago JR, Olstein JS, Tesluk H, Sheikholislam B, Palmer JM, Link D. Virilizing adrenal cortical carcinoma with hypertrophy of spermatic tubules in childhood. Urology. 1979;14:70–5.

    Article  CAS  PubMed  Google Scholar 

  31. Kim MS, Yang EJ, Cho DH, Hwang PH, Lee DY. Virilizing adrenocortical carcinoma advancing to central precocious puberty after surgery. Korean J Fam Med. 2015;36:150–3.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Cunnanh D, Perry L, Dacie JA, Grant DB, Lowe DG, Savage MO, Besser GM. Bilateral testicular tumours in congenital adrenal hyperplasia: a continuing diagnostic and therapeutic dilemma. Clin Endocrinol (Oxf). 1989;30:141–7.

    Article  Google Scholar 

  33. Reznik Y, Rieu M, Kuhn JM, Mandard JC, Bottet P, Lemonnier D, Bekka S, Mahoudeau J. Luteinizing hormone regulation by sex steroids in men with germinal and Leydig cell tumours. Clin Endocrinol (Oxf). 1993;38:487–93.

    Article  CAS  Google Scholar 

  34. Bode HH, Schimana W, Swai B, Bode U. Sexual precocity associated with an abdominal tumor in an African boy. J Pediatr Endocrinol Metab. 2008;21:275–7.

    Article  CAS  PubMed  Google Scholar 

  35. Eren E, Demirkaya M, Çakır ED, Sevinir B, Sağlam H, Tarım Ö. A rare cause of precocious puberty: hepatoblastoma. J Clin Res Pediatr Endocrinol. 2009;1:281–3.

    Article  PubMed  Google Scholar 

  36. Al-Jumaily U, Sammour I, Al-Muhaisen F, Ajlouni F, Sultan I. Precocious puberty in an infant with hepatoblastoma: a case report. J Med Case Reports. 2011;5:422.

    Article  PubMed Central  Google Scholar 

  37. Marino S, Caruso M, Magro G, D’Amico S, La Spina M, Moscheo C, Russo G, Di Cataldo A. Hepatoblastoma presenting as precocious puberty: a case report. J Pediatr Endocrinol Metab. 2015;28:429–32.

    Article  PubMed  Google Scholar 

  38. Bowden SA, Germak JA. Klinefelter syndrome presenting with precocious puberty due to a human chorionic gonadotropin (hCG)-producing mediastinal germinoma. J Pediatr Endocrinol Metab. 2006;19:1371.

    Article  PubMed  Google Scholar 

  39. Marshall GA, McMahon SK, Nicholls W, Pretorius CJ, Ungerer JP. Gonadotrophin-independent precocious puberty in an eight-year-old boy due to ectopic human chorionic gonadotrophin from the central nervous system. Ann Clin Biochem. 2010;47:271–4.

    Article  CAS  PubMed  Google Scholar 

  40. Nascimento DJ, Leães CG, Pereira-Lima JF, Oliveira MC. Precocious puberty due to human chorionic gonadotropin secreting germinoma. J Pediatr Neurosci. 2012;7:202–4.

    Article  PubMed  PubMed Central  Google Scholar 

  41. Nair M, Kusumakumary P, Ninan A. Precocious puberty as initial presentation in mediastinal tumour. Indian Pediatr. 2013;50:424–6.

    Article  PubMed  Google Scholar 

  42. Wendt S, Shelso J, Wright K, Furman W. Neoplastic causes of abnormal puberty. Pediatr Blood Cancer. 2014;61:664–71.

    Article  CAS  PubMed  Google Scholar 

  43. Goswami S, Chakraborty PP, Bhattacharjee R, Roy A, Thukral A, Selvan C, Ghosh S, Mukhopadhyay S, Chowdhury S. Precocious puberty: a blessing in disguise! Indian J Endocrinol Metab. 2013;17(Suppl 1):S111–3.

    Article  PubMed  PubMed Central  Google Scholar 

  44. Cohgen AR, Wilson JA, Sadeghi-Nejad A. Gonadotropin-secreting pineal teratoma causing prcocious puberty. Neurosurgery. 1991;28:597–602.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Manuel Nistal .

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer International Publishing AG

About this chapter

Cite this chapter

Nistal, M., González-Peramato, P., Serrano, Á. (2017). Macroorchidisms Secondary to Functioning Tumors during Childhood. In: Clues in the Diagnosis of Non-tumoral Testicular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-49364-0_15

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-49364-0_15

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-49363-3

  • Online ISBN: 978-3-319-49364-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics