Aserlind Alexandra, Martini Anne, Dong Jiawen, Zolton Jessica, Carpinello Olivia, DeCherney Alan
Department of Obstetrics, Gynecology and Reproductive Services, University of Miami/Jackson Memorial Hospital, Miami, Florida.
Program in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
F S Rep. 2020 Oct 10;1(3):287-293. doi: 10.1016/j.xfre.2020.10.001. eCollection 2020 Dec.
To describe fertility characteristics, outcomes of oocyte cryopreservation cycles, and safety of ovarian stimulation in patients with GATA binding protein 2 (GATA2) deficiency, dedicator of cytokinesis 8 (DOCK8) deficiency, and sickle cell disease (SCD) preparing for hematopoetic stem cell transplantation (HSCT).
Retrospective case series.
The National Institutes of Health.
Female patients with GATA2 deficiency, DOCK8 deficiency, and SCD aged between 13 and 38 years.
None.
Demographic and ovarian reserve parameters, stimulation outcomes, and adverse event occurrences were collected through chart review. Descriptive statistics were used to identify trends within disease subcategories.
Twenty-one women with GATA2 deficiency, DOCK8 deficiency, and SCD underwent fertility preservation prior to HSCT. Patients with DOCK8 deficiency had the lowest mean age (16.5 years old) and antimüllerian hormone (0.85 ng/mL). Patients with GATA2 deficiency had the highest antral follicle count and antimüllerian hormone (25.77 and 5.07 ng/mL, respectively). Baseline follicle-stimulating hormone, luteinizing hormone, and estradiol were comparable between the cohorts. The duration of stimulation was similar (10.43 to 11.25 days) across all groups. Comparable peak estradiol levels were achieved across the cohorts. Patients with SCD had the highest mature (MII) oocyte yield (10.71). Three patients experienced complications related to stimulation: pain crisis in a patient with SCD, pulmonary embolism, and zero oocytes cryopreserved in a patient with GATA2 deficiency.
This study offers insight into controlled ovarian stimulation in patients with these conditions prior to HSCT. Oocyte cryopreservation can be performed successfully, although adverse events must be considered. Following the outcomes of gamete use in this cohort will serve to further our knowledge of the true reproductive potential of this population.
描述准备接受造血干细胞移植（HSCT）的GATA结合蛋白2（GATA2）缺乏症、细胞分裂素8（DOCK8）缺乏症和镰状细胞病（SCD）患者的生育特征、卵母细胞冷冻保存周期的结果以及卵巢刺激的安全性。
回顾性病例系列研究。
美国国立卫生研究院。
年龄在13至38岁之间的GATA2缺乏症、DOCK8缺乏症和SCD女性患者。
无。
通过病历审查收集人口统计学和卵巢储备参数、刺激结果以及不良事件的发生情况。使用描述性统计方法来确定疾病亚组中的趋势。
21例GATA2缺乏症、DOCK8缺乏症和SCD患者在HSCT前进行了生育力保存。DOCK8缺乏症患者的平均年龄最低（16.5岁），抗苗勒管激素水平也最低（0.85 ng/mL）。GATA2缺乏症患者的窦卵泡计数和抗苗勒管激素水平最高（分别为2525.77和5.07 ng/mL）。各队列之间的基线促卵泡生成素、促黄体生成素和雌二醇水平相当。所有组的刺激持续时间相似（10.43至11.25天）。各队列达到的雌二醇峰值水平相当。SCD患者的成熟（MII）卵母细胞产量最高（10.71）。3例患者经历了与刺激相关的并发症：1例SCD患者出现疼痛危机，1例发生肺栓塞，1例GATA2缺乏症患者冷冻保存的卵母细胞为零。
本研究为这些患者在HSCT前进行控制性卵巢刺激提供了见解。卵母细胞冷冻保存可以成功进行，尽管必须考虑不良事件。追踪该队列中配子使用的结果将有助于进一步了解该人群的真正生殖潜力。
