Human Reproduction, Vol. 16, No. 1, 82-90,
January 2001
© 2001 European Society of Human Reproduction and Embryology
Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men*
1 Departments of Cytogenetics and Reproductive Medicine, University Hospital of Amiens, 2 Department of Cytogenetics, University Hospital of Necker-Enfants-Malades, Paris, 3 Departments of Cytogenetics and Reproductive Medicine, University Hospital of Tenon, Paris, 4Department of Human Genetics, University Hospital of Tours, France, 5Department of Cytogenetics, Hospital of Caen, 6Department of Human Genetics, University Hospital of Toulouse, 7 Department of Cytogenetics, University Hospital of Reims, 8 Cytogenetic Laboratory of Metz, 9 Department of Cytogenetics, University Hospital of Jean Verdier, Bondy, France
To assess the frequency of chromosomal aberrations in French candidates for intracytoplasmic sperm injection (ICSI), and to explore the existence of a female chromosomal factor in some cases of couple infertility, a collaborative retrospective clinical and cytogenetic study was performed, launched by the Association des Cytogénéticiens de Langue Franciaise (ACLF). The karyotypes of 3208 patients [2196 men (68.4%), 1012 (31.6%) women] included in ICSI programmes over a 3-year period in France were collected. A total of 183 aberrant karyotypes was diagnosed, corresponding to an abnormality frequency of 6.1% (134/2196) for men and 4.84% (49/1012) for women. The following frequencies of abnormalities were observed respectively for men and women: 1.23% (n = 27) and 0.69% (n = 7) for reciprocal translocations, 0.82% (n = 18) and 0.69% (n = 7) for Robertsonian translocations, 0.13% (n = 3) and 0.69% (n = 7) for inversions, 3.32% (n = 73) and 2.77% (n = 28) for numerical sex chromosome aberrations, and 0.59% (n = 13) and 0% for other structural aberrations. Among the male patients of this latter group, 0.40% (n = 9) had a Y chromosome abnormality. Among the male patients with numerical sex chromosome abnormalities, 2.23% (n = 49) were 47,XXY, 0.32% (n = 7) were 47,XYY, and 0.77% (n = 17) had a mosaicism for numerical sex chromosome anomalies. All the female patients with sex chromosome abnormalities (2.77%, n = 28) had mosaicism for numerical sex chromosome anomalies. Even if these cases—the significance of which was sometimes questioned—were disregarded in the analysis, 2.08% (21/1012) of abnormal karyotypes remained in women. An overall increased frequency of chromosomal aberrations was found, and this confirmed that in some cases of poor reproductive outcome there may be a contribution of maternal chromosome aberrations. Indeed, the existence of a chromosome abnormality in the female partner was associated with the group of infertile men in which there was no apparent cause of infertility.
Key words: chromosomal aberration/female infertility/genetic counselling/intracytoplasmic sperm injection/male infertility
1 These analyses were carried out at the Department of Cytogenetics and Reproductive Medicine, University Hospital of Amiens, France.
2 Association de Cytogeneticiens de Langue Francaise:
M.Montagnon, Department of Cytogenetics, University Hospital of Ambroise Paré, Boulogne-Billancourt, France
N.Rives, Department of Cytogenetics, University Hospital of Rouen, France
L. Clotteau, Department of Cytogenetics, University Hospital of Rouen, France
M.C.Malingue, Department of Human Genetics, Centre University Hospital of Angers, France
P.Darabi, Department of Reproductive Medicine, Centre University Hospital of Cochin, Paris, France
C.Poitot, Department of Reproductive Medicine, Centre University Hospital of Cochin, Paris, France
F.Baverel, Department of Cytogenetics, University Hospital of Cochin, Paris, France
S.Lesourd, Departments of Cytogenetics and Reproductive Medicine, University Hospital of Pitié-Salpêtrière, Paris, France
M.A.Collonge-Rame, Departments of Reproductive Medicine, Hospital of Besancion, France
J.Lespinasse, Department of Cytogenetics, University Hospital of Chambéry, France
C.Carel, Department of Human Genetics, University Hospital of Nice, France
A.Devaux, Department of Reproductive Medicine, University Hospital of Bichat, Paris, France
M.H.Couturier-Turpin, Department of Cytogenetics, University Hospital of Bichat, Paris, France
F.Mugneret, Department of Cytogenetics, Hospital of Dijon, France
S.Delcleve-Paulhac, Department of Reproductive Medicine, University Hospital of Limoges, France
C.Yardin, Department of Cytogenetics, University Hospital of Limoges, France
F.Cartault, Department of Human Genetics, Hospital of St Denis la Réunion, France
10 To whom correspondence should be addressed E-mail: gekas.jean{at}chu-amiens.fr
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