45,X/46,XX mosaicism in female partners of couples undergoing in vitro fertilization or ICSI: effects on treatment outcomes

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OBJECTIVE: There is an increased rate of low-level sex chromosome mosaicism (scm) (45,X/46,XX) in the female partners of couples undergoing intracytoplasmic sperm injection (ICSI). 45,X is responsible for diminished ovarian reserve.We realised a retrospective study to evaluate differences in ovarian reserve and in in vitro fertilization (IVF) +/− ICSI outcomes between patients who had scm diagnosed incidentally and controls women. DESIGN: We included women aged from 21 to 43 years referred for IVF or ICSI in our unit and who benefited from a karyotype. MATERIALS AND METHODS: All chromosomal analysis were performed in our laboratory. 71 women with numerical scm (45,X/46,XX) range from 4% to 28% were included in group I. They were adjusted for age at karyotype with 73 control women (46,XX) (group II). Ovarian stimulations protocols and criteria for oocyte retrieval were the same in both groups. X2 and Student's t-tests were used to compare the results. RESULTS: Indications for karyotypes and aetiologies of infertility did not differ between the groups. The two groups did not differ for: age at recruitment (33.9±4.3 vs 33.2±4.2 years; P = 0.31), body mass index, tobacco, menses and dysmenorrhea. Early-follicular-phase blood assessments for FSH, LH, estradiol or TSH were done in our laboratory and no significant difference was found between the groups. Clinical or biological diminished ovarian reserve was no more associated with scm. 122 ICSI plus 34 IVF treatment cycles and 148 ICSI plus 35 IVF treatment cycles were performed in groups I and II respectively. The number of days of ovarian stimulation and total gonadotrophin doses were not different between the two groups. 24 and 18 cycles were cancelled in groups I and II respectively (P = 0.19). No difference was found for the mean number of oocytes retrieved, metaphase II oocytes and atretic oocytes, but mean number of embryos was higher in the group I (3.6±3.5 vs 2.8±2.4; P = 0.02). Among women recruited only for male factor's infertility, mean number of oocytes retrieved was higher in group I (11.2±6.2 vs 8.8±5.2; p=0.02), also mean number of metaphase II oocytes (9.3±5.5 vs 6.6±4.1; P = 0.002) and mean number of embryos (4.8±4.6 vs 3.1±2.7; P = 0.008). Clinical pregnancy rates per oocyte recovery cycle were 18.5% and 19.7 % respectively (P=ns). Pregnancy outcomes did not differ after IVF treatments between groups. CONCLUSIONS: We confirm that sex chromosme mosaicism under 28% of aneuploidy does not negatively affect the course and outcome of IVF or ICSI.