title: Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy.
abstract: Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults. There are conflicting reports about its effect on female fertility. This study investigated ovarian reserve and IVF-preimplantation genetic diagnosis (PGD) outcome in women with DM1. A total of 21 women undergoing PGD for DM1 were compared with 21 age- and body mass index-matched women undergoing PGD for other diseases. Ovarian reserve markers, response to stimulation, embryo quality and clinical pregnancy and live birth rates were compared. Day-3 FSH concentration was higher, while anti-Müllerian hormone concentration and antral follicle count were lower in the DM1 group (median, range: 6.9 (1.8-11.3) versus 5.7 (1.5-10.7)IU/l; 0.9 (0.17-5.96) versus 2.68 (0.5-9.1)ng/ml; and 13 (0-63) versus 23 (8-40) follicles, respectively, all P < 0.05). Total FSH dose was higher (5200 versus 2250 IU, P = 0.004), while the numbers of oocytes retrieved (10 versus 16, P < 0.04) and metaphase-II oocytes (9 versus 12, P < 0.03) were lower in the DM1 group. The number of cycles with top-quality embryos and the clinical pregnancy rate were lower in the DM1 group. In conclusion, there is evidence of diminished ovarian reserve and less favourable IVF-PGD outcome in women with DM1. Myotonic Dystrophy (DM) is the most common form of muscular dystrophy in adults. There is evidence of subfertility in males affected with the disease but conflicting reports about the effect of the disease on female fertility. The aim of our study was to investigate ovarian reserve and IVF-PGD results in women with DM. Twenty-one women undergoing preimplantation genetic diagnosis (PGD) treatment for DM were compared to 21 age- and BMI matched women undergoing PGD treatment for other diseases. The two groups were compared for antral follicle count (AFC) and serum anti-Mullerian hormone (AMH) levels (the best known markers of ovarian reserve and fertility potential), ovarian response, embryo quality and pregnancy and live birth rates. AFC and the AMH levels were statistically significant lower in the DM group. Total medication dose needed for ovarian stimulation was higher, the number of oocytes and mature oocytes retrieved, and the number of cycles with top quality embryos were lower in the DM group compared to the controls. In conclusion, there is evidence of diminished ovarian reserve, and less favorable IVF-PGD outcome in women with DM. Therefore, we recommend advising these women about the possibility of early decreasing ovarian function in order to prevent any delay in reproductive planning.
authors.affiliation: Reproductive Endocrinology and Genetics Unit, IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Hebrew University School of Medicine, Jerusalem, Israel. Electronic address: srebnikn@szmc.org.il.
authors.forename: N
authors.initials: N
authors.lastname: Srebnik
authors.affiliation: Reproductive Endocrinology and Genetics Unit, IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: E J
authors.initials: EJ
authors.lastname: Margalioth
authors.affiliation: Ultrasound Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Rabinowitz
authors.affiliation: Reproductive Endocrinology and Genetics Unit, IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Varshaver
authors.affiliation: Medical Genetics Institute, 'ZOHAR' PGD Lab, Shaare Zedek Medical Center, Jerusalem, Israel; Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: G
authors.initials: G
authors.lastname: Altarescu
authors.affiliation: Medical Genetics Institute, 'ZOHAR' PGD Lab, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: P
authors.initials: P
authors.lastname: Renbaum
authors.affiliation: Medical Genetics Institute, 'ZOHAR' PGD Lab, Shaare Zedek Medical Center, Jerusalem, Israel; Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Levi-Lahad
authors.affiliation: Reproductive Endocrinology and Genetics Unit, IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Weintraub
authors.affiliation: Reproductive Endocrinology and Genetics Unit, IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Hebrew University School of Medicine, Jerusalem, Israel.
authors.forename: T
authors.initials: T
authors.lastname: Eldar-Geva
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000097:blood; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007247:Infertility, Female / Q000150:complications*; D009223:Myotonic Dystrophy / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D054315:Oocyte Retrieval; D065851:Ovarian Reserve; D011247:Pregnancy; D011256:Pregnancy Outcome; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis
chemical_list: D054304:Anti-Mullerian Hormone
keywords: IVF; anti-Müllerian hormone; antral follicle count; myotonic dystrophy; ovarian reserve; preimplantation genetic diagnosis