Moore Andrew K, Lynch Kelly, Arny Margaret J, Grow Daniel R
Baystate Reproductive Medicine, Baystate Medical Center, Springfield, Massachusetts, USA.
Fertil Steril. 2008 Nov;90(5):2012.e13-5. doi: 10.1016/j.fertnstert.2008.03.063. Epub 2008 Jun 12.
To report a case of Turner mosaicism with low oocyte maturity during ICSI.
Retrospective case report.
Academic tertiary medical center.
PATIENT(S): A 28-year-old patient with 7-year history of primary unexplained infertility.
INTERVENTION(S): Four cycles of ICSI.
MAIN OUTCOME MEASURE(S): Oocyte quality; fertilization, cleavage, and implantation rates; and live births during ICSI cycles; as well as patient karyotype were obtained.
RESULT(S): Over four cycles of ICSI, 111 oocytes were harvested, a high follicular response, but 68% were immature (germinal vesicles or metaphase I). Additionally, seven embryos were transfered, but none implanted. Owing to this unusual response in a young healthy woman, maternal karyotype was performed, which demonstrated 17% Turner mosaicism.
CONCLUSION(S): This is, to our knowledge, the first reported case of excellent ovarian response but marked oocyte immaturity in a young woman with Turner mosaicism. The implications of sex chromosome aneuploidy on fertility and the significance of low oocyte maturity are discussed.
报告一例在卵胞浆内单精子注射（ICSI）过程中出现低卵母细胞成熟度的特纳镶嵌现象病例。
回顾性病例报告。
学术性三级医疗中心。
一名28岁女性，有7年原发性不明原因不孕症病史。
四个周期的ICSI。
获取卵母细胞质量、受精率、卵裂率、着床率以及ICSI周期中的活产情况；同时获取患者的核型。
在四个周期的ICSI过程中，共采集到111个卵母细胞，卵泡反应良好，但68%的卵母细胞不成熟（处于生发泡期或减数分裂中期I）。此外，移植了7个胚胎，但均未着床。鉴于一名年轻健康女性出现这种异常反应，对其进行了母本核型分析，结果显示存在17%的特纳镶嵌现象。
据我们所知，这是首例报道的年轻女性特纳镶嵌现象患者出现良好卵巢反应但显著卵母细胞不成熟的病例。本文讨论了性染色体非整倍体对生育能力的影响以及低卵母细胞成熟度的意义。
