Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men*

Abstract

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.

Correlation of Various Causes of Secondary Infertility in Males

“…Sex chromosome abnormalities are an important cause of male infertility [23], [24] . Intracytoplasmic sperm injection (ICSI) is an effective therapeutic method, especially in couples with male infertility and/or unsuccessful in vitro fertilization (IVF) experiences [23] .…”

“…Cytogenetic evaluation of couples prior to ICSI shows thatboth genders are equally at risk for sex chromosome abnormalities. An increased incidence of the 47, XYY karyotype in infertile males has been reported [24] , although the majority of individuals with this karyotype are fertile and show normal spermatogenesis [24], [25] . In those males who have spermatogenetic failure, abnormalities of azoospermia factor genes in the euchromatic region on the long arm of the Y chromosome (Yq) have been reported [24] .…”

“…An increased incidence of the 47, XYY karyotype in infertile males has been reported [24] , although the majority of individuals with this karyotype are fertile and show normal spermatogenesis [24], [25] . In those males who have spermatogenetic failure, abnormalities of azoospermia factor genes in the euchromatic region on the long arm of the Y chromosome (Yq) have been reported [24] . The Yqmicrodeletions of azoospermia factor (AZF) regions are major causes of infertility associated with severe oligospermia and azoospermia [26] and may also be associated with somatic and germinal gonosomal mosaicism [27]- [29] .…”

A 45,X/47,XYY/46,XY Karyotype and Y Chromosome Microdeletion in an Infertile Male

“…Infertility is an important health problem that affects about 10-15% of all couples attempting pregnancy [1,2]. Sex chromosome abnormalities are an important cause of male infertility [1,2].…”

Risk of transmission of genetic diseases by assisted reproduction

“…Structural defects include balanced and unbalanced translocations as well as inversions and deletions. Using karyotype analysis, Gekkas et al 5 reported that 6.1% of unselected men (134 of 2,190) who needed ICSI had a somatic chromosomal rearrangement. The frequency of somatic (blood) chromosome abnormalities was higher in men with azoospermia (18.71%) than in men with severe (14.55%) or moderate (2.37%) oligozoospermia.…”