Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (75)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Kleiman, S.E.
Right arrow Articles by Yavetz, H.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kleiman, S.E.
Right arrow Articles by Yavetz, H.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Reproduction, Vol. 14, No. 1, 33-38, January 1999
© 1999 European Society of Human Reproduction and Embryology

Genetic evaluation of infertile men

S.E. Kleiman1, L. Yogev, R. Gamzu, R. Hauser, A. Botchan, J.B. Lessing, G. Paz and H. Yavetz

Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, and Sackler School of Medicine, Tel Aviv University, Israel

Recently, microdeletions in the azoospermic factor region of the Y chromosome, in addition to chromosomal anomalies, have been detected in men with azoospermia or severe oligozoospermia. In this study we evaluated the molecular and cytogenetic defects of infertile men. The frequency of Y microdeletions among 105 azoospermic, 28 oligozoospermic and 32 fertile men was tested on lymphocyte DNA using a series of 20 sequence-tagged sites. In addition, microdeletions were evaluated on testicular-derived DNA among 26 azoospermic patients who underwent testicular biopsy and in whom no sperm cells could be identified. Karyotype analysis was performed on 72 of the infertile patients. Deletions were detected in 6.7% azoospermic and 3.6% oligozoospermic men. No deletions were identified among the fertile men. Identical results were obtained with DNA derived either from lymphocytes or testicular tissue. The frequency of chromosomal aberrations in the 72 infertile patients tested (62 azoospermic, 10 oligozoospermic) was 16.6%, with a high percentage of gonosome anomalies. Additional andrological parameters (hormone values, cryptorchidism) failed to identify men at risk for having microdeletions before the test. Our findings support the recommendation to perform genetic defect screening among infertile men before their enrolment in an intracytoplasmic injection/in-vitro fertilization programme.

Key words: infertility/karyotype/microdeletions/testis

1 To whom correspondence should be addressed at: Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J AndrolHome page
S. G. Martinez-Garza, M. C. Gallegos-Rivas, M. Vargas-Maciel, J. M. Rubio-Rubio, M. E. de los Monteros-Rodriguez, C. Gonzalez-Ortega, P. Cancino-Villarreal, L. G. V. de Lara, and A. M. Gutierrez-Gutierrez
Genetic Screening in Infertile Mexican Men: Chromosomal Abnormalities, Y Chromosome Deletions, and Androgen Receptor CAG Repeat Length
J Androl, November 1, 2008; 29(6): 654 - 660.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
S.E. Kleiman, L. Yogev, R. Hauser, A. Botchan, B.B.-S. Maymon, G. Paz, and H. Yavetz
Expression profile of AZF genes in testicular biopsies of azoospermic men
Hum. Reprod., January 1, 2007; 22(1): 151 - 158.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
M. Lynch, D.S. Cram, A. Reilly, M.K. O'Bryan, H.W.G. Baker, D.M. de Kretser, and R.I. McLachlan
The Y chromosome gr/gr subdeletion is associated with male infertility
Mol. Hum. Reprod., July 1, 2005; 11(7): 507 - 512.
[Abstract] [Full Text] [PDF]

Home page
 J AndrolHome page
L. Yogev, S. Segal, E. Zeharia, R. Gamzu, B. B. Maymon, G. Paz, A. Botchan, R. Hauser, H. Yavetz, and S. E. Kleiman
Sex Chromosome Alignment at Meiosis of Azoospermic Men With Azoospermia Factor Microdeletion
J Androl, January 1, 2004; 25(1): 110 - 116.
[Abstract] [Full Text] [PDF]

Home page
 J AndrolHome page
S. E. Kleiman, L. Yogev, E. N. Gal-Yam, R. Hauser, R. Gamzu, A. Botchan, G. Paz, H. Yavetz, B. B.-S. Maymon, L. Schreiber, et al.
Reduced Human Germ Cell-Less (HGCL) Expression in Azoospermic Men With Severe Germinal Cell Impairment
J Androl, September 1, 2003; 24(5): 670 - 675.
[Abstract] [Full Text] [PDF]

Home page
 J AndrolHome page
G. Paz, R. Gamzu, and H. Yavetz
Diagnosis of Nonobstructive Azoospermia: The Laboratory Perspective
J Androl, March 1, 2003; 24(2): 167 - 169.
[Full Text] [PDF]

Home page
 Hum ReprodHome page
C.M. Luetjens, J. Gromoll, M. Engelhardt, S. von Eckardstein, M. Bergmann, E. Nieschlag, and M. Simoni
Manifestation of Y-chromosomal deletions in the human testis: a morphometrical and immunohistochemical evaluation
Hum. Reprod., September 1, 2002; 17(9): 2258 - 2266.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S Kirsch, B Weiss, S Kleiman, K Roberts, J Pryor, A Milunsky, A Ferlin, C Foresta, G Matthijs, and G A Rappold
Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere
J. Med. Genet., July 1, 2002; 39(7): 507 - 513.
[Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
M.G. Katz, B. Chu, R. McLachlan, N.I. Alexopoulos, D.M. de Kretser, and D.S. Cram
Genetic follow-up of male offspring born by ICSI, using a multiplex fluorescent PCR-based test for Yq deletions
Mol. Hum. Reprod., June 1, 2002; 8(6): 589 - 595.
[Abstract] [Full Text] [PDF]

Home page
 J AndrolHome page
P. N. Kolettis
The Evaluation and Management of the Azoospermic Patient
J Androl, May 1, 2002; 23(3): 293 - 305.
[Full Text] [PDF]

Home page
 Hum ReprodHome page
B. Peterlin, T. Kunej, J. Sinkovec, N. Gligorievska, and B. Zorn
Screening for Y chromosome microdeletions in 226 Slovenian subfertile men
Hum. Reprod., January 1, 2002; 17(1): 17 - 24.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
C. Kamp, K. Huellen, S. Fernandes, M. Sousa, P.N. Schlegel, A. Mielnik, S. Kleiman, H. Yavetz, W. Krause, W. Kupker, et al.
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome
Mol. Hum. Reprod., October 1, 2001; 7(10): 987 - 994.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
B. Sonntag, D. Meschede, V. Ullmann, P. Gassner, J. Horst, E. Nieschlag, and H.M. Behre
Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome
Hum. Reprod., August 1, 2001; 16(8): 1648 - 1652.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
C. Krausz and K. McElreavey
Y chromosome microdeletions in `fertile' males
Hum. Reprod., June 1, 2001; 16(6): 1306 - 1306.
[Full Text] [PDF]

Home page
 Endocr. Rev.Home page
C. Foresta, E. Moro, and A. Ferlin
Y Chromosome Microdeletions and Alterations of Spermatogenesis
Endocr. Rev., April 1, 2001; 22(2): 226 - 239.
[Abstract] [Full Text]

Home page
 Hum ReprodHome page
S.E. Kleiman, B.B.-S. Maymon, L. Yogev, G. Paz, and H. Yavetz
The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells
Hum. Reprod., March 1, 2001; 16(3): 399 - 402.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
S. L. Liow, E. L. Yong, and S. C. Ng
Prognostic value of Y deletion analysis: How reliable is the outcome of Y deletion analysis in providing a sound prognosis?
Hum. Reprod., January 1, 2001; 16(1): 9 - 12.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
O. Blagosklonova, F. Fellmann, M.-C. Clavequin, C. Roux, and J.-L. Bresson
AZFa deletions in Sertoli cell-only syndrome: a retrospective study
Mol. Hum. Reprod., September 1, 2000; 6(9): 795 - 799.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
C. Krausz, L. Quintana-Murci, and K. McElreavey
Prognostic value of Y deletion analysis: What is the clinical prognostic value of Y chromosome microdeletion analysis?
Hum. Reprod., July 1, 2000; 15(7): 1431 - 1434.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
B.B.-S. Maymon, G. Paz, D.J. Elliott, I. Hammel, S.E. Kleiman, L. Yogev, R. Hauser, A. Botchan, and H. Yavetz
Maturation phenotype of Sertoli cells in testicular biopsies of azoospermic men
Hum. Reprod., July 1, 2000; 15(7): 1537 - 1542.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
L. Van Landuyt, W. Lissens, K. Stouffs, H. Tournaye, I. Liebaers, and A. Van Steirteghem
Validation of a simple Yq deletion screening programme in an ICSI candidate population
Mol. Hum. Reprod., April 1, 2000; 6(4): 291 - 297.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
D. Meschede, B. Dworniczak, H.M. Behre, E. Nieschlag, and J. Horst
No evidence for uniparental disomy of the sex chromosomes in idiopathic male infertility
Mol. Hum. Reprod., January 1, 2000; 6(1): 1 - 4.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
C. Foresta, E. Moro, A. Garolla, M. Onisto, and A. Ferlin
Y Chromosome Microdeletions in Cryptorchidism and Idiopathic Infertility
J. Clin. Endocrinol. Metab., October 1, 1999; 84(10): 3660 - 3665.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
A. Ferlin, E. Moro, M. Onisto, E. Toscano, A. Bettella, and C. Foresta
Absence of testicular DAZ gene expression in idiopathic severe testiculopathies
Hum. Reprod., September 1, 1999; 14(9): 2286 - 2292.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.