Skip Navigation



Hum. Reprod. Advance Access published online on May 14, 2009
Human Reproduction, doi:10.1093/humrep/dep180
This Article
Right arrow Full Text
Right arrow Full Text (PDF )
Right arrow All Versions of this Article:
24/9/2353    most recent
dep180v1
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 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 arrowRequest Permissions
Google Scholar
Right arrow Articles by Sciurano, R.B.
Right arrow Articles by Solari, A.J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Sciurano, R.B.
Right arrow Articles by Solari, A.J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2009. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients

R.B. Sciurano1, C.V. Luna Hisano1, M.I. Rahn1, S. Brugo Olmedo2, G. Rey Valzacchi3, R. Coco4 and A.J. Solari1,5

1 Biología Celular, Facultad de Medicina, UBA, Paraguay 2155, C1121ABG Buenos Aires, Argentina 2 Seremas, C1120AAN Buenos Aires, Argentina 3 Procrearte, C1176ABV Buenos Aires, Argentina 4 Fecunditas, C1030AAP Buenos Aires, Argentina

5 Corresponding address. Tel/Fax: +54-11-4961-2763; E-mail: ajsolari{at}mail.retina.ar

BACKGROUND: Klinefelter syndrome is the most frequent chromosome abnormality in human males. This paper aims to investigate the ploidy of meiotic and pre-meiotic germ cells found in spermatogenic foci, and furthermore, the sex chromosome constitution of Sertoli cells which surround these germ cells in non-mosaic Klinefelter patients.

METHODS and RESULTS: A survey of 11 adult patients diagnosed with classical, non-mosaic Klinefelter syndrome who underwent testicular biopsies, showed that six of them had spermatogenesis foci. The topographical study of the biopsies showed that tubuli with germ cells are a minor fraction (8–24%) of all tubuli, although the overwhelming majority is devoid of germ cells. Using fluorescence in situ hybridization (FISH) with probes for the X-centromere and immunolocalization of meiotic proteins, the present work shows that all the 92 meiotic spermatocytes analyzed with FISH were euploid, 46,XY, and thus can form normal, haploid gametes. On the other hand, Sertoli cells show two marks for the X chromosome, meaning that they are 47,XXY.

CONCLUSIONS: These results provide a rationale for the high rate of success in the testicular sperm extraction plus ICSI procedures when applied to Klinefelter patients. It is also in agreement with previous studies in the XXY-mouse model. These spermatogenic foci most probably originate from clones of spermatogonia that have randomly lost one of the X chromosomes, probably during periods of life when high spermatogonial mitotic activity occurs.

Key words: Klinefelter syndrome/germ cells/meiosis/XY body/sperm aneuploidy

Submitted on May 17, 2009; resubmitted on April 15, 2009; accepted on April 20, 2009.


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




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.