Reproductive Biology Unit CECOS, Paris-Saclay University, Antoine Béclère Hospital, APHP Clamart, France.
Laboratoire de Développement des Gonades, UMRE008 Stabilité Génétique Cellules Souches et Radiations, Université de Paris, Université Paris-Saclay, CEA, Fontenay-aux-Roses, France.
J Clin Endocrinol Metab. 2020 Mar 1;105(3). doi: 10.1210/clinem/dgaa041.
Myotonic dystrophy (DM) is an autosomal dominant disorder characterized mainly by myotonia but also by primary hypogonadism. No study has reported on fertility management of patients affected by DM type 1 (DM1).
This study investigates the impact of CTG repeats in the DMPK gene on semen quality and preimplantation genetic diagnosis (PGD) outcome.
This is a monocentric retrospective observational study conducted from January 2003 to January 2019.
Antoine Béclère University Hospital, Clamart, France.
Three groups were compared in this study: male DM1 patients (Group A, n = 18), unaffected partners of DM1 female patients (Group B, n = 30), and proven fertile men (Group C, n = 33). Reproductive outcomes after PGD were compared between groups A and B.
Sperm volume was reduced in group A (2.0 mL) when compared with groups B (3.0 mL; P < 0.01) and C (3.5 mL; P < 0.01). Progressive motility in raw sperm was also decreased in group A (30%) as compared to group C (40%; P < 0.01). The median number of progressive spermatozoa retrieved after sperm preparation was 2.7 million (M) in group A, which was significantly less than those of groups B (10.0 M; P < 0.01) and C (62.2 M; P < 0.01). Sperm motility was inversely correlated to the number of CTG repeats (Spearman r2 = 0.48, Pearson r2 = 0.35). Cumulative live birth rate per transfer was similar between groups, with 32.2% in group A versus 26.8% in group B.
As a precautionary measure, we advise physicians to perform regular monitoring of semen quality in affected males, which would allow sperm cryopreservation should semen parameters fall. PGD allows good reproductive outcomes without disease transmission.
肌强直性营养不良（DM）是一种常染色体显性遗传疾病，主要表现为肌强直，但也存在原发性性腺功能减退。目前尚无研究报道 1 型 DM（DM1）患者的生育管理。
本研究旨在探讨 DMPK 基因中的 CTG 重复对精液质量和植入前遗传学诊断（PGD）结果的影响。
这是一项于 2003 年 1 月至 2019 年 1 月在法国克拉马尔安托万·贝克莱尔大学医院进行的单中心回顾性观察研究。
法国克拉马尔安托万·贝克莱尔大学医院。
本研究比较了三组患者：DM1 男性患者（A 组，n=18）、DM1 女性患者的未受影响伴侣（B 组，n=30）和已证实生育能力正常的男性（C 组，n=33）。比较了 A 组和 B 组患者 PGD 后的生殖结局。
与 B 组（3.0 毫升；P<0.01）和 C 组（3.5 毫升；P<0.01）相比，A 组（2.0 毫升）的精子量减少。A 组原始精子的前向运动活力也有所降低（30%比 C 组 40%；P<0.01）。A 组精子制备后获得的前向运动精子中位数为 270 万（M），明显少于 B 组（1000 万；P<0.01）和 C 组（6220 万；P<0.01）。精子活力与 CTG 重复数呈负相关（Spearman r2=0.48，Pearson r2=0.35）。各组间每周期的累积活产率相似，A 组为 32.2%，B 组为 26.8%。
作为一项预防措施，我们建议医生定期监测受影响男性的精液质量，如果精液参数下降，应进行精子冷冻保存。PGD 可实现良好的生殖结局，且不会导致疾病传播。
