Korean J Urol.  2013 Feb;54(2):111-116.

Detection of Y Chromosome Microdeletion is Valuable in the Treatment of Patients With Nonobstructive Azoospermia and Oligoasthenoteratozoospermia: Sperm Retrieval Rate and Birth Rate

Affiliations
  • 1Department of Urology, CHA Bundang Medical Center, CHA University, Seongnam, Korea. honguro4@hanmail.net

Abstract

PURPOSE
We evaluated clinical characteristics, sperm retrieval rates, and birth rates in a relatively large number of infertile patients with Y chromosome microdeletions.
MATERIALS AND METHODS
We retrospectively reviewed clinical data from 213 patients with nonobstructive azoospermia (NOA) and 76 patients with oligoasthenoteratozoospermia (OATS) who were tested for Y chromosome microdeletion from March 2004 to June 2011.
RESULTS
Of the 289 patients, 110 patients presented with Y chromosome microdeletion and 179 patients presented with no microdeletion. Among the patients with Y chromosome microdeletions, 83/110 (75.4%) were NOA patients and 27/110 (24.5%) were OATS patients. After subdividing the patients with Y chromosome microdeletion, 29 had azoospermia factor (AZF)b-c microdeletion and 81 had AZFc microdeletion. The sperm retrieval rate was similar between patients with Y chromosome microdeletion and those with no microdeletion (26.6% vs. 25.6%, p=0.298) after multiple testicular sperm extraction (TESE). Excluding 53 patients who did not undergo TESE, 30 patients were analyzed. All of the 9 men with AZFb-c microdeletion had a complete absence of sperm despite multiple TESE. However, multiple TESE was successful for 9 of 21 patients with only AZFc microdeletion (p=0.041). Twenty patients with Y chromosome microdeletion gave birth.
CONCLUSIONS
In NOA and OATS patients, no significant difference in the sperm retrieval rate was shown between patients with Y chromosome microdeletion and those with no microdeletion. Patients with short Y chromosome microdeletion such as AZFc microdeletion have better prognoses for sperm retrieval and an increased chance of conception than do patients with larger microdeletions such as AZFb-c microdeletion.

Keyword

Assisted reproductive techniques; Azoospermia; Male infertility; Sperm retrieval; Y chromosome

MeSH Terms

Avena
Azoospermia
Birth Rate
Chromosome Deletion
Chromosomes, Human, Y
Fertilization
Humans
Infertility, Male
Male
Parturition
Prognosis
Reproductive Techniques, Assisted
Retrospective Studies
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Sperm Retrieval
Spermatozoa
Y Chromosome
Chromosome Deletion
Chromosomes, Human, Y
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development

Figure

  • FIG. 1 Schematic depiction the location of azoospermia factor (AZF) regions a, b, and c in the Y chromosome. SRY, sex-determining region of the Y chromosome.


Reference

1. Thonneau P, Marchand S, Tallec A, Ferial ML, Ducot B, Lansac J, et al. Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988-1989). Hum Reprod. 1991. 6:811–816.
2. De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod. 1991. 6:245–250.
3. Nordenson I, Abramsson L, Duchek M. Somatic chromosomal aberrations and male infertility. Hum Hered. 1984. 34:240–245.
4. Bourrouillou G, Bujan L, Calvas P, Colombies P, Mansat A, Pontonnier F. Role and contribution of karyotyping in male infertility. Prog Urol. 1992. 2:189–195.
5. Vogt PH, Edelmann A, Hirschmann P, Kohler MR. The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis. Reprod Fertil Dev. 1995. 7:685–693.
6. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001. 22:226–239.
7. Foresta C, Moro E, Ferlin A. Prognostic value of Y deletion analysis: the role of current methods. Hum Reprod. 2001. 16:1543–1547.
8. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions: state of the art 2004. Int J Androl. 2004. 27:240–249.
9. 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. 10:383–393.
10. Kent-First MG, Kol S, Muallem A, Ofir R, Manor D, Blazer S, et al. The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Reprod. 1996. 2:943–950.
11. Oliva R, Margarit E, Ballescá JL, Carrio A, Sanchez A, Mila M, et al. Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection. Fertil Steril. 1998. 70:506–510.
12. Mulhall JP, Reijo R, Alagappan R, Brown L, Page D, Carson R, et al. Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod. 1997. 12:503–508.
13. Page DC, Silber S, Brown LG. Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod. 1999. 14:1722–1726.
14. van Golde RJ, Wetzels AM, de Graaf R, Tuerlings JH, Braat DD, Kremer JA. Decreased fertilization rate and embryo quality after ICSI in oligozoospermic men with microdeletions in the azoospermia factor c region of the Y chromosome. Hum Reprod. 2001. 16:289–292.
15. Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod. 2002. 17:2813–2824.
16. Kumtepe Y, Beyazyurek C, Cinar C, Ozbey I, Ozkan S, Cetinkaya K, et al. A genetic survey of 1935 Turkish men with severe male factor infertility. Reprod Biomed Online. 2009. 18:465–474.
17. Vutyavanich T, Piromlertamorn W, Sirirungsi W, Sirisukkasem S. Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia. Asian J Androl. 2007. 9:68–75.
18. Tsujimura A, Matsumiya K, Takao T, Miyagawa Y, Koga M, Takeyama M, et al. Clinical analysis of patients with azoospermia factor deletions by microdissection testicular sperm extraction. Int J Androl. 2004. 27:76–81.
19. Silber SJ, Nagy Z, Devroey P, Tournaye H, Van Steirteghem AC. Distribution of spermatogenesis in the testicles of azoospermic men: the presence or absence of spermatids in the testes of men with germinal failure. Hum Reprod. 1997. 12:2422–2428.
20. Silber SJ, Alagappan R, Brown LG, Page DC. Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. Hum Reprod. 1998. 13:3332–3337.
21. 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. 18:1660–1665.
22. Saut N, Terriou P, Navarro A, Levy N, Mitchell MJ. The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Mol Hum Reprod. 2000. 6:789–793.
23. Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod. 2001. 7:987–994.
24. Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, et al. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod. 1998. 13:2812–2815.
25. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis. Hum Reprod. 2000. 15:1431–1434.
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