Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment

Abstract

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 TUBB8-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 TUBB8-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.

摘要

卵母细胞成熟缺陷是不孕症治疗中的一大难题, 其病因可能与内分泌因素、卵巢刺激方案、卵母细胞固有缺陷或胚胎学实验室操作有关。我们报告了三例治疗原发性不孕症的墨西哥女性在卵巢刺激和卵母细胞获取后卵母细胞未成熟的病例, 通过外显子组测序发现了TUBB8-卵母细胞成熟缺陷的基因诊断。两对夫妇在确定了遗传学病因后, 通过捐献的卵子实现了妊娠。我们的结果扩大了TUBB8-障碍在非亚裔患者中的作用。单基因来源的卵母细胞成熟缺陷是越来越多的疾病, 内分泌学家和生殖医学专家应该意识到这一点, 以提供遗传学参考, 从而为患者正确及时地诊断。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• β-tubulin
• exome sequencing
• immature oocyte
• in vitro fertilization
• reproductive genetics

Disclosure statement

The authors report no conflict of interest