Program in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 10 CRC, Room 1E-3140, 10 Center Drive, MSC 1109, Bethesda, MD, 20892, USA.
National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
J Assist Reprod Genet. 2018 Jul;35(7):1201-1207. doi: 10.1007/s10815-018-1146-0. Epub 2018 Mar 13.
To describe controlled ovarian stimulation (COS) in a population of women with GATA2 deficiency, a genetic bone marrow failure syndrome, prior to allogeneic hematopoietic stem cell transplant METHODS: This is a retrospective case series of nine women with GATA2 deficiency who underwent oocyte preservation at a research institution. Main outcomes measured include baseline fertility characteristics ((antimullerian hormone (AMH) and day 3 follicle-stimulating hormone (FSH) and estradiol (E2)) and total doses of FSH and human menopausal gonadotropins (HMG), E2 on day of trigger, and total number of metaphase II oocytes retrieved.
The mean age was 24 years [16-32], mean AMH was 5.2 ng/mL [0.7-10], and day 3 mean FSH was 5.1 U/L [0.7-8.1], and E2 was 31.5 pg/mL [< 5-45]. The mean dose of FSH was 1774 IU [675-4035], and HMG was 1412 IU [375-2925] with a mean E2 of 2267 pg/mL [60.7-4030] on day of trigger. The mean total of metaphase II oocytes was 7.7 [0-15]. One patient was diagnosed with a deep vein thrombosis (DVT) with pulmonary embolism (PE) during COS.
This study is the first to analyze the outcomes of COS in women with GATA2 deficiency. The response to ovarian stimulation suggests that oocyte cryopreservation should be considered prior to gonadotoxic therapy. However, due to the risk of potentially life-threatening complications, it is prudent that patients are properly counseled of the risks and are evaluated by a multi-disciplinary medical team prior to COS.
描述 GATA2 缺陷（一种遗传性骨髓衰竭综合征）患者在异基因造血干细胞移植前进行控制性卵巢刺激（COS）的情况。
这是一项对在研究机构进行卵子保存的 9 名 GATA2 缺陷女性的回顾性病例系列研究。主要测量结果包括基线生育特征（抗苗勒管激素（AMH）和第 3 天卵泡刺激素（FSH）和雌二醇（E2））以及 FSH 和人绝经期促性腺激素（HMG）的总剂量、触发日的 E2 和获得的中期 II 卵母细胞总数。
平均年龄为 24 岁[16-32]，平均 AMH 为 5.2ng/ml[0.7-10]，第 3 天平均 FSH 为 5.1U/L[0.7-8.1]，E2 为 31.5pg/ml [<5-45]。FSH 的平均剂量为 1774IU[675-4035]，HMG 为 1412IU[375-2925]，触发日 E2 的平均水平为 2267pg/ml[60.7-4030]。中期 II 卵母细胞总数平均为 7.7[0-15]。1 名患者在 COS 期间被诊断为深静脉血栓形成（DVT）伴肺栓塞（PE）。
本研究首次分析了 GATA2 缺陷女性的 COS 结果。对卵巢刺激的反应表明，在性腺毒性治疗前应考虑进行卵母细胞冷冻保存。然而，由于存在潜在危及生命的并发症风险，患者在进行 COS 前应得到多学科医疗团队的适当咨询和评估。
