Human Reproduction, Vol. 14, No. 7, 1717-1721,
July 1999
© 1999 European Society of Human Reproduction and Embryology
Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection
1 Andrology Unit, Department of Clinical Physiopathology, 2 Department of Obstetric and Gynecology, University of Florence, Firenze, Italy and 3 Immunogenetique Humaine, Institut Pasteur, Paris, France
The potential of assisted reproduction techniques to transmit genetic defects causing male infertility raises questions concerning the need for a systematic genetic screen and counselling. Deletions of the long arm of the Y chromosome are frequently associated with a failure of spermatogenesis. The search for Y specific sequences and for the gene families RNA binding motif (RBM) and deleted in azoospermia (DAZ) have been introduced in many laboratories. The incidence of Y microdeletions varies widely between studies, from 1–55%. These differences are mainly related to study design. The highest incidence of microdeletions has been reported in well selected idiopathic azoospermic patients. Since microdeletions have been reported also in non-idiopathic patients, it is important to define what is the deletion frequency in unselected patients. We report Y chromosome microdeletion screening in 134 unselected patients undergoing intracytoplasmic sperm injection (ICSI). In the first part of the study we tested six Y chromosome markers. We found three patients with microdeletions (2.2%). Subdivision of the study population revealed a deletion incidence of 4.7% in azoospermic/cryptozoospermic patients; an incidence of 7% in idiopathic patients and an incidence of 16% in idiopathic azoospermic/cryptozoospermic patients. The second part of the study consisted of a screen for the presence of the Y chromosome genes, DBY, CDY, XKRY, eIF-1A, DAZ and BPY2. No additional gene-specific deletions were found. Further data on gene specific screening are needed especially for selected idiopathic patients.
Key words: infertility/ICSI/screening/Y chromosome
4 To whom correspondence should be addressed at: Immunogenetique Humain, Institut Pasteur, 25, Rue du Docteur Roux, Paris, Cedex 15, France
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