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Oocyte cryopreservation for women with GATA2 deficiency

  • Fertility Preservation
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

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.

Results

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.

Conclusion

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.

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Acknowledgements

Supported, in part, by the Program in Reproductive Endocrinology and Gynecology; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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Authors and Affiliations

  1. 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

    Jessica R. Zolton, Toral P. Parikh, Micah J. Hill & Alan H. DeCherney

  2. National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Dennis D. Hickstein

  3. National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Steven M. Holland

  4. Pelex, 931 Douglass Drive, McLean, VA, 22101, USA

    Erin F. Wolff

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  1. Jessica R. Zolton
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Correspondence to Jessica R. Zolton.

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Zolton, J.R., Parikh, T.P., Hickstein, D.D. et al. Oocyte cryopreservation for women with GATA2 deficiency. J Assist Reprod Genet 35, 1201–1207 (2018). https://doi.org/10.1007/s10815-018-1146-0

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  • DOI: https://doi.org/10.1007/s10815-018-1146-0

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