Advertisement

Journal of Assisted Reproduction and Genetics

, Volume 35, Issue 8, pp 1503–1508 | Cite as

An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization

  • Mona K. Mekkawy
  • Ahmed M. El Guindi
  • Inas M. Mazen
  • Alaaeldin G. Fayez
  • Amal M. Mohamed
  • Alaa K. Kamel
Genetics
  • 37 Downloads

Introduction

45,X testicular disorder of sex development (DSD) is a very rare disorder. It usually results from Y/ autosomal translocations or insertion [1, 2, 3]. The frequency of Y/ autosome translocations in the general population is generally low occurring in about 1 in 2000 [4].

Y/ autosome (Y;A) translocations are usually balanced and segregate in families with minimal effects on the phenotype [4, 5, 6]. On the other hand, unbalanced Y;A reciprocal translocations commonly present with infertility and azoospermia [7, 8, 9]. Some patients may present with other presentations related to abnormal sex chromosme dosage as ambiguous genitalia, short stature, and some of the Turner syndrome features. Others may have congenital malformations, and mental subnormality depending on the genes involved in the autosome [2, 3, 10, 11]. Almost all autosomes had been reported, but acrocentrics are the most commonly involved [2, 12, 13, 14, 15, 16].

The causative factor of male infertility and...

Notes

Funding information

This work was funded by the in-house projects program, National Research Centre, grant no. 10010604.

References

  1. 1.
    Chernykh VB, Vyatkina SV, Antonenko VG, Shilova NV, Zolotukhina TV, Kurilo LF, et al. Unique mosaic X/Y translocation/insertion in infant 45,X male. Am J Med Genet A. 2008;146A:3195–7.CrossRefPubMedGoogle Scholar
  2. 2.
    Dati E, Valetto A, Bertini V, Chiocca E, Baroncelli GI, Battini R, et al. 45,X maleness: clinical and cytogenetic features in two patients. Sex Dev. 2011;5(6):281–6.CrossRefPubMedGoogle Scholar
  3. 3.
    Bilen S, Okten A, Karaguzel G, Ikbal M, Aslan Y. A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report. Genet Couns. 2013;24(3):299–305.PubMedGoogle Scholar
  4. 4.
    Hsu LYF. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994;53:108–40.CrossRefPubMedGoogle Scholar
  5. 5.
    Cohen MM, Frederick RW, Balkin NE, Simpson SJ. The identification of Y chromosome translocations following distamycin A treatment. Clin Genet. 1981;19:335–42.CrossRefPubMedGoogle Scholar
  6. 6.
    Morales C, Soler A, Bruguera J, Madrigal I, Alsius M, Obon M, et al. Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion. Cytogenet Genome Res. 2007;116:319–23.CrossRefPubMedGoogle Scholar
  7. 7.
    Guichaoua MR, Quack B, Speed RM, Noel B, Chandley AC, Luciani JM. Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum Genet. 1990;86:162–6.CrossRefPubMedGoogle Scholar
  8. 8.
    Pinho MJ, Neves R, Costa P, Ferrás C, Sousa M, Alves C, et al. Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: a case report. Hum Reprod. 2005;20:689–96.CrossRefPubMedGoogle Scholar
  9. 9.
    Braun-Falco M, Schempp W, Nevinny-Stickel-Hinzpeter C, Köhn FM. Azoospermia due to a unique de novo balanced reciprocal translocation (Y;1) (q12;q25). J Androl. 2007;28(5):647–51.CrossRefPubMedGoogle Scholar
  10. 10.
    Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling. Sex chromosome translocations. New York, Oxford: Oxford University Press; 1996. p. 95–114.Google Scholar
  11. 11.
    Mareri A, Iezzi M, Salvatore A, Ligas C, D’Alessandro E. A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review. J Pediatr Endocrinol Metab. 2016;29:857–62.CrossRefPubMedGoogle Scholar
  12. 12.
    Boutouil M, Fetni R, Qu J, Dallaire L, Richer C-L, Lemieux L. Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation. Hum Genet. 1996;98:323–7.CrossRefPubMedGoogle Scholar
  13. 13.
    Shanske A, Ellison J, Vuguin P, Dowling P,Wasserman E, heinrichj, Saenger P: Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature. Am J Med Genet 1999; 82: 34–39.Google Scholar
  14. 14.
    Alves C, Carvalho F, Cremades N, Sousa M, Barros A. Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Eur J Hum Genet. 2002;10:467–74.CrossRefPubMedGoogle Scholar
  15. 15.
    Borie C, Léger J, Dupuy O, Hassan M, Ledu N, Lebbar A, et al. Translocation (Y;22) resulting in the loss of SHOX and isolated short stature. Am J Med Genet A. 2004;125A(2):186–90.CrossRefPubMedGoogle Scholar
  16. 16.
    Orrico A, Marseglia G, Pescucci C, Cortesi A, Piomboni P, Giansanti A, et al. Molecular dissection using array comparative genomic hybridization and clinical evaluation of an infertile male carrier of an unbalanced Y;21 translocation: a case report and review of the literature. Int J Fertil Steril. 2016;9:581–5.PubMedGoogle Scholar
  17. 17.
    Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 1996;5:933–43.CrossRefPubMedGoogle Scholar
  18. 18.
    Vogt PH, Bender U. Human Y chromosome microdeletion analysis by PCR multiplex protocols identifying only clinically relevant AZF microdeletions. Methods Mol Biol. 2013;927:187–204.CrossRefPubMedGoogle Scholar
  19. 19.
    Liow SL, Yong EL, Ng SC. Prognostic value of Y deletion analysis: how reliable is the outcome of Y deletion analysis in providing a sound prognosis? Hum Reprod. 2001;16:9–12.CrossRefPubMedGoogle Scholar
  20. 20.
    Kauppi L, Barchi M, Baudat F, Romanienko PJ, Keeney S, Jasin M. Distinct properties of the XY pseudoautosomal region crucial for male meiosis. Science. 2011;331:916–20.CrossRefPubMedPubMedCentralGoogle Scholar
  21. 21.
    Buonadonna AL, Cariola F, Caroppo E, Di Carlo A, Fiorente P, Valenzano MC, et al. Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation. Hum Reprod. 2002;17:564–9.CrossRefPubMedGoogle Scholar
  22. 22.
    Röpke A, Stratis Y, Dossow-Scheele D, Wieacker P, Kliesch S, Tüttelmann F. Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report. J Assist Reprod Genet. 2013;30:1553–8.CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Delobel B, Djlelati R, Gabriel-Robez O, Croquette MF, Rousseaux-Prevost R, Rousseaux J, et al. Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies. Hum Genet. 1998;102:98–102.CrossRefPubMedGoogle Scholar
  24. 24.
    Verma RS, Babu A. Human chromosomes—principles and techniques. Mcgraw-Hill. 1995:1–183.Google Scholar
  25. 25.
    ISCN 2016: An International System for Human Cytogenomic Nomenclature (2016) Reprint of: Cytogenetic and Genome Research 2016, Vol. 149, No. 1–2 1st Edition. McGowan-Jordan J, Simons A, Schmid M (Editors). Karger, Basel.Google Scholar
  26. 26.
    Pinkel D, Gray J, Trask B, Van den Engh G, Fuscoe J, Van Dekken H. Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. In Cold Spring Harbor symposia on quantitative biology (Vol. 51, pp. 151–157). Cold Spring Harbor Laboratory Press, 1986.Google Scholar
  27. 27.
    Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal micro- deletions. State of the art 2004. Int J Androl. 2004;27:240–9.CrossRefPubMedGoogle Scholar
  28. 28.
    Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab. 2011;25:271–85.CrossRefPubMedGoogle Scholar
  29. 29.
    Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology. 2011;77:598–601.CrossRefPubMedGoogle Scholar
  30. 30.
    Stahl A, Hartung M, Devictor M, Bergé-Lefranc JL. The association of the nucleolus and the short arm of acrocentric chromosomes with the XY pair in human spermatocytes: its possible role in facilitating sex-chromosome acrocentric translocations. Hum Genet. 1984;68:173–80.CrossRefPubMedGoogle Scholar
  31. 31.
    Turleau C, Chavin-Colin F, de Grouchy J. A 45,X male with translocation of euchromatic Y chromosome material. Hum Genet. 1980;53:299–302.CrossRefPubMedGoogle Scholar
  32. 32.
    de la Chapelle A, Page DC, Brown L, Kaski U, Parvinen T, Tippett PA. The origin of 45,X males. Am J Hum Genet. 1986;38:330–40.PubMedPubMedCentralGoogle Scholar
  33. 33.
    Andersson M, Page DC, Pettay D, Subrt I, Turleau C, De Grouchy J, et al. Y; autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum Genet. 1988;79:2–7.CrossRefPubMedGoogle Scholar
  34. 34.
    Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 1990;346:240–5.CrossRefPubMedGoogle Scholar
  35. 35.
    Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, et al. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. J Clin Endocrinol Metab. 2004;89:4403–8.CrossRefPubMedGoogle Scholar
  36. 36.
    Buys CH, Anders GJ, Borkent-Ypma JM, Blenkers-Platter JA, van der Hoek-van der Veen AY. Familial transmission of a translocation Y/14. Hum Genet 1979;53:125–127.Google Scholar
  37. 37.
    Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet. 1995;10:383–93.CrossRefPubMedGoogle Scholar
  38. 38.
    Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001;22:226–239.Google Scholar
  39. 39.
    Helena Mangs A, Morris BJ. The human pseudoautosomal region (PAR): origin, function and future. Curr Genomics. 2007;8:129–36.CrossRefPubMedPubMedCentralGoogle Scholar
  40. 40.
    Reitalu J. A familial Y-22 translocation in man. Hereditas. 1973;74:155–60.CrossRefPubMedGoogle Scholar
  41. 41.
    Leschot NJ, von den Velden J, Marinkovic-Ilsen A, Darling SM, Nijenhuis LE. Homozygosity for a Y/22 chromosome translocation: t(Y;22) (q12;p12/13). Clin Genet. 1986;29:251–7.CrossRefPubMedGoogle Scholar
  42. 42.
    Brisset S, Izard V, Misrahi M, Aboura A, Madoux S, Ferlicot S, et al. Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report. Hum Reprod. 2005;20:2168–72.CrossRefPubMedGoogle Scholar
  43. 43.
    Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod. 2003;18:1660–5.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Mona K. Mekkawy
    • 1
  • Ahmed M. El Guindi
    • 2
  • Inas M. Mazen
    • 3
  • Alaaeldin G. Fayez
    • 4
  • Amal M. Mohamed
    • 1
  • Alaa K. Kamel
    • 1
  1. 1.Human Cytogenetics DepartmentNational Research CentreCairoEgypt
  2. 2.Department of Andrology, Kasr Al Ainy Faculty of MedicineCairo UniversityCairoEgypt
  3. 3.Clinical Genetics DepartmentNational Research CentreCairoEgypt
  4. 4.Molecular Genetics and Enzymology DepartmentNational Research CentreCairoEgypt

Personalised recommendations