Hatırnaz Şafak, Hatırnaz Ebru, Tan Justin, Çelik Samettin, Soyer Çalışkan Canan, Başbuğ Alper, Aydın Gerçek, Bahadırlı Ali, Bülbül Mehmet, Çelik Handan, Ellibeş Kaya Aşkı, Dokuzeylül Güngör Nur, Tan Seang Lin, Cao Mingju, Dahan Michael H, Ürkmez Sebati Sinan
Mediliv Medical Center, Samsun, Turkey.
Toronto University Faculty of Medicine, Department of Obstetrics and Gynecology, Ontario, Canada.
Turk J Obstet Gynecol. 2024 Sep 4;21(3):142-152. doi: 10.4274/tjod.galenos.2024.84031.
To review the outcomes of in vitro maturation (IVM) and in vitro fertilization (IVF) in women with empty follicle syndrome (EFS). The study evaluated the genetic underpinnings of EFS by analyzing mutations.
This retrospective case series involving 17 women with EFS over at least 2 IVF cycles was conducted. The study also employed whole-exome sequencing to analyze the genetic mutations. The treatment approaches included letrozole-primed IVM, follicle-stimulating hormone (FSH)-human chorionic gonadotrophin (hCG)-primed IVM, and conventional IVF.
The average female age was 31.5±4.6 years, and the duration of infertility was 7.3±3.5 years. Four patients underwent IVF. IVM oocyte collections yielded oocytes in 12 of 13 subjects. Of these, 75% (9/12) yielded MII oocytes after 48 h of IVM media incubation. Six subjects had fertilized embryos, resulting in a 40.9% intracytoplasmic sperm injection (ICSI) fertilization rate (9 embryos/22 MII oocytes). Genetic analysis revealed mutations in seven patients. This study demonstrated the partial efficacy of letrozole-primed IVM plus growth hormone and FSH-hCG primed IVM protocols. No pregnancies or live births were recorded after IVM. One ongoing pregnancy post-IVF and one spontaneous live birth were observed.
Inter-cycle variabilities were observed in women with oocyte maturation abnormalities (OMAs). Almost all patients with EFS had oocytes collected during IVM following IVF. These oocytes have limited potential for maturation, fertilization, and live birth, as demonstrated by the low rates observed after IVM culture and ICSI. These conditions are observed in OMAs due to defects in the oocyte machinery. The proposed flowchart provides a comprehensive classification approach for various forms of EFS.
回顾空卵泡综合征（EFS）女性的体外成熟（IVM）和体外受精（IVF）结局。该研究通过分析突变评估EFS的遗传基础。
开展了这项回顾性病例系列研究，纳入至少经历2次IVF周期的17例EFS女性。该研究还采用全外显子组测序分析基因突变。治疗方法包括来曲唑启动的IVM、促卵泡激素（FSH）-人绒毛膜促性腺激素（hCG）启动的IVM以及传统IVF。
平均女性年龄为31.5±4.6岁，不孕持续时间为7.3±3.5年。4例患者接受了IVF。IVM卵母细胞采集在13例受试者中的12例获得了卵母细胞。其中，75%（9/12）在IVM培养基孵育48小时后产生了MII期卵母细胞。6例受试者有受精胚胎，胞浆内单精子注射（ICSI）受精率为40.9%（9个胚胎/22个MII期卵母细胞）。基因分析在7例患者中发现了突变。本研究证明了来曲唑启动的IVM加生长激素和FSH-hCG启动的IVM方案的部分疗效。IVM后未记录到妊娠或活产。观察到1例IVF后持续妊娠和1例自然活产。
卵母细胞成熟异常（OMA）女性存在周期间变异性。几乎所有EFS患者在IVF后的IVM期间采集到了卵母细胞。如IVM培养和ICSI后观察到的低比率所示，这些卵母细胞成熟、受精和活产的潜力有限。由于卵母细胞机制缺陷，这些情况在OMA中可见。所提出的流程图为各种形式的EFS提供了一种全面的分类方法。
