Instituto de Ciencias en Reproducción Humana (Instituto Vida), León, México.
Centro de Innovación Tecnológica y Medicina Reproductiva (CITMER), México City, México.
Gynecol Endocrinol. 2020 Sep;36(9):829-834. doi: 10.1080/09513590.2020.1725968. Epub 2020 Feb 17.
Oocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of -oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of -disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis.
卵母细胞成熟缺陷是不孕不育治疗中的一个具有挑战性的情况，其病因可能与内分泌原因、卵巢刺激中使用的方案、卵母细胞内在缺陷或胚胎学实验室的程序有关。我们报告了三名接受原发性不孕治疗的墨西哥女性，在卵巢刺激和卵母细胞采集后出现未成熟卵母细胞，通过外显子组测序揭示了卵母细胞成熟缺陷的基因诊断。在确定遗传病因后，通过卵子捐赠，两对夫妇成功怀孕。我们的结果扩展了 - 疾病在非亚洲血统患者中的作用。单基因来源的卵母细胞成熟缺陷是一组不断增加的疾病，内分泌学家和生殖医学专家应该意识到这一点，以便为建立正确和及时的诊断提供向遗传学的转介。
