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Journal of Assisted Reproduction and Genetics
Published in: Journal of Assisted Reproduction and Genetics 7/2018

01-07-2018 | Fertility Preservation

Oocyte cryopreservation for women with GATA2 deficiency

Authors: Jessica R. Zolton, Toral P. Parikh, Dennis D. Hickstein, Steven M. Holland, Micah J. Hill, Alan H. DeCherney, Erin F. Wolff

Published in: Journal of Assisted Reproduction and Genetics | Issue 7/2018

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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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Metadata
Title
Oocyte cryopreservation for women with GATA2 deficiency
Authors
Jessica R. Zolton
Toral P. Parikh
Dennis D. Hickstein
Steven M. Holland
Micah J. Hill
Alan H. DeCherney
Erin F. Wolff
Publication date
01-07-2018
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 7/2018
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-018-1146-0

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