Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Abstract

BACKGROUND: Myotonic dystrophy (MD) is characterized by myotonia, multisystemic lesions and hypogonadism.In women, the relationship between MD and infertility remains controversial. This study investigated the ovarian status and response to controlled ovarian stimulation (COS) in MD women entering our preimplantation genetic diagnosis programme. METHODS: We elected to compare MD patients with X-linked disorders (XLD) carriers, given that XLD have not been shown to affect ovarian status. On the one hand, we analysed all the cycles performed and, on the other hand, we conducted a subanalysis based on only first cycles. RESULTS: MD and XLD groups were similar with regard to women's ages, day 3 parameters, number of oocytes retrieved, embryos obtained and prevalence of top quality embryos. The day of HCG was significantly delayed and the prevalence of poor quality embryos was higher in the MD group. The subanalysis on first cycles only also showed significantly fewer mature follicles on the day of HCG in MD population. Implantation and pregnancy rates were similar in both groups; however, no pregnancy occurred at the first cycle in MD (0 out of 4), whereas 77% of pregnancies (10/13) occurred at the first attempt in XLD carriers. CONCLUSIONS: These results indicate that the responsiveness to COS was moderately hindered in MD women as compared to controls. Reassuring data about implantation and pregnancy rates support the feasibility of PGD in selected mildly affected MD women.

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

“…After 2004, only three couples were enrolled in the program, and seven cycles were started, yielding five oocyte retrievals and four embryo transfers; no pregnancies occurred. Incidentally, a significantly decreased ovarian response was also found in women affected by myotonic dystrophy (35).…”

The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract

“…1 Expected (∎) vs real (•) cumulative delivery rate (percentage) study group total (female + male affected Steinert patients) (n=78) There are no significant differences between any of these results commonly been accepted as normal, although oligomenorrhea, abortions and early menopause have been reported [23]. In contrast with this, Feyereisen and colleagues suggested in a recent small series of patients that ovarian response is lower than in controls based on an observed significant delay in day of hCG administration and a higher prevalence of poor quality embryos in the DM1 group [24]. Another small study by Sahu et al similarly suggested a reduced ovarian reserve and ovarian response [25].…”

Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I

“…Marchini et al (19) reported that sterility or hypogonadism were not related to the number of CTG repeats. Feyereisen et al (10) found no statistically significant correlation between the ovarian status, response to COS, or cancellation rate for insufficient response and (CTG) triplet repeats.…”

“…Feyereisen et al compared the ovarian response of women with DM1 with women with X-linked disorder carriers. They concluded that women with DM1 have a moderate decrease in fertility (10).…”

“…Patients with DM1, especially males, are reported to have reduced fertility (6,7). However, such an association between female fertility and DM1 remains controversial (8)(9)(10).…”