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Journal of Endocrinological Investigation

, Volume 27, Issue 4, pp 370–374 | Cite as

Bilateral carcinoma in situ of the testis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation in an azoospermic patient with late-onset 21β-hydroxylase deficiency

  • L. Foppiani
  • M. Baffico
  • G. Lando
  • C. Cappi
  • P. De Cassan
  • M. C. Patrosso
  • A. Vitali
  • S. Penco
  • M. Giusti
  • F. Minuto
Case Report
  • 32 Downloads

Abstract

Testicular cancer can impair spermatogenesis. In addition, chemotherapy or radiotherapy used for its treatment further damage testicular function mainly affecting highly proliferating germ cells. The multifaceted etiology of male infertility includes, among others, alterations of male reproductive tract differentiation such as monolateral or bilateral congenital absence of vas deferens and perturbations in adrenal steroid synthesis on a genetic basis such as 21β-hydroxylase deficiency. Herein, we report the case of a male patient with primary infertility, probably related to a combination of genetic and acquired factors with different expressions over time.

Key-words

Infertility carcinoma in situ CFTR mutation, 21β-hydroxylase deficiency CYP21 mutation 

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References

  1. 1.
    Vaughn DJ, Gignac GA, Meadows AT. Long-term medical care of testicular cancer survivors. Ann Int Med 2002, 136: 463–70.PubMedCrossRefGoogle Scholar
  2. 2.
    De Palma A, Vicari E, Palermo I, et al. Effects of cancer and anti-neoplastic treatment on the human testicular function. J Endocrinol Invest 2000, 23: 690–6.PubMedCrossRefGoogle Scholar
  3. 3.
    Berger CC, Bokemeyer C, Schuppert F, Schmoll HJ. Endocrinological late effects after chemotherapy for testicular cancer. Br J Canc 1996, 73: 1108–14.CrossRefGoogle Scholar
  4. 4.
    Quinzi C, Castellani C. The cystic fibrosis transmembrane regulator gene and male infertility. J Endocrinol Invest 2000, 23: 684–9.CrossRefGoogle Scholar
  5. 5.
    Jarvi K, McCallum S, Zielenski J. Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of the cystic fibrosis transmembrane conductance regulator gene mutations. Fertil Steril 1998, 7: 724–8.CrossRefGoogle Scholar
  6. 6.
    Sokol RZ. Infertility in men with cystic fibrosis. Curr Opin Pulm Med 2000, 17: 421–6.Google Scholar
  7. 7.
    Kalachans I, Rousso D, Goutzioulis F, Makedos G, Panidis D. Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency. Arch Androl 2002, 48: 37–41.CrossRefGoogle Scholar
  8. 8.
    Ojeifo JO, Winters SJ, Troen P. Basal and adrenocorticotropic hormone-stimulated serum 17α-hydroxyprogesterone in men with idiopathic infertility. Fertil Steril 1984, 42: 97–101.PubMedGoogle Scholar
  9. 9.
    Augarten A, Weissenberg R, Pariente C, Sack J. Reversible male infertility in late onset congenital adrenal hyperplasia. J Endocrinol Invest 1991, 14: 237–40.PubMedCrossRefGoogle Scholar
  10. 10.
    Bonizzato A, Rolfini R, Cabrini G. Detection of cystic fibrosis mutations by reverse dot-blot hybridization. Eur J Lab Med 1999, 7: 117–22.Google Scholar
  11. 11.
    Daudin M, Bieth E, Bujan L, Massat G, Pontonnier F, Mieusset R. Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counsuelling. Fertil Steril 2000, 74: 1164–74.PubMedCrossRefGoogle Scholar
  12. 12.
    Stuhrmann M, Dörk T. CFTR gene mutations and male infertility. Andrologia 2000, 32: 71–83.PubMedCrossRefGoogle Scholar
  13. 13.
    Milunsky JM, Milusky A. Case report: cystic fibrosis and embryonal carcinoma of the testis. Am J Med Sci 1996, 311: 191–2.PubMedCrossRefGoogle Scholar
  14. 14.
    Giwercman A, Petersen P. M. Cancer and male infertility. Baillieres Best Pract Res Clin Endocrinol Metab 2000, 14: 453–71.PubMedCrossRefGoogle Scholar
  15. 15.
    Petersen PM, Giwercman A, Skakkebaek NE, Rorth M. Gonadal function in men with testicular cancer. Semin Oncol 1998, 25: 224–34.PubMedGoogle Scholar
  16. 16.
    Adesokan A, Adegboyega PA, Cowan DF, Kocurek J, Neal DE. Testicular “tumor” of the adrenogenital syndrome: a case report of an unusual association with the myelolipoma and seminoma in cryptoorchidism. J Clin Endocrinol Metab 1997, 80: 2120–7.Google Scholar
  17. 17.
    Brehm R, Marks A, Rey R, Kliesch S, Bergmann M, Steger K. Altered expression of connexins 26 and 43 in Sertoli cells in seminiferous tubules infiltrated with carcinoma in situ or seminoma. J Pathol 2002, 197: 647–53.PubMedCrossRefGoogle Scholar
  18. 18.
    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: 664–70.PubMedGoogle Scholar
  19. 19.
    Merke DP, Bornstein SR, Avila NA, Chrousos GP. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Ann Intern Med 2002, 136: 320–34.PubMedCrossRefGoogle Scholar
  20. 20.
    Helmberg A, Luna MT, Tabarelli M, Kofler R, White P. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrinol 1992, 6: 1318–22.PubMedGoogle Scholar

Copyright information

© Italian Society of Endocrinology (SIE) 2004

Authors and Affiliations

  • L. Foppiani
    • 1
  • M. Baffico
    • 2
  • G. Lando
    • 3
  • C. Cappi
    • 1
  • P. De Cassan
    • 2
  • M. C. Patrosso
    • 3
  • A. Vitali
    • 4
  • S. Penco
    • 3
  • M. Giusti
    • 1
  • F. Minuto
    • 1
  1. 1.DiSEMUniversity of GenoaGenoaItaly
  2. 2.Laboratory of Human GeneticsGalliera HospitalGenoaItaly
  3. 3.Genetic Analysis Division of Biochemistry LaboratoryNiguarda Ca’ Granda HospitalMilanItaly
  4. 4.Unit of PathologyS.Corona HospitalPietra Ligure, SavonaItaly

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