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Hum. Reprod. Advance Access published online on May 19, 2005
Human Reproduction, doi:10.1093/humrep/dei083
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© The Author 2005. 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@oupjournals.org
Received March 9, 2004
Revised March 17, 2005
Accepted April 18, 2005

Case Report

Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: Case report

Sanja Vujisic 1*, Feodora Stipoljev 2, Renato Bauman 3, Romana Dmitrovic 3, and Davor Jezek 4

1 Clinical Laboratory for Human Reproduction, University of Zagreb, Zagreb, Croatia
2 Clinical Cytogenetic Laboratory, Department of Obstetrics and Gynaecology, University of Zagreb, Zagreb, Croatia
3 Department of Obstetrics and Gynaecology, Medical School, University of Zagreb, Sveti Duh Hospital, Zagreb, Croatia
4 Institute of Histology and Embryology, Medical School, University of Zagreb, Zagreb, Croatia

* To whom correspondence should be addressed.
Sanja Vujisic, E-mail: sanja_vujisic{at}hotmail.com


  Abstract

The empty follicle syndrome (EFS) is defined as a lack of retrieved oocytes from follicles, at the time of repeated aspiration and flushing, following ovulation induction. The actual mechanism responsible for the EFS is still unknown. The aim of this study was to offer more information regarding the possible connection of this syndrome with pericentric inversion of chromosome 2. We give a case report of a patient who had multiple failed IVF attempts, due to the absence of oocyte and granulosa cells in the follicular fluid, following oocyte retrieval in both stimulated and natural cycles. Chromosomal analysis showed the presence of a pericentric inversion of chromosome 2: 46,XX,inv(2)(p11q21) in the female partner karyotype, while the male partner had a normal karyotype. Our case showed possible genetic factor influence in the aetiology of EFS.

Keywords: chromosome 2; cytogenetic analysis; empty follicle syndrome; pericentric inversion.
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