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- W2752723060 abstract "GATA2 deficiency is caused by a sporadic or germline transcription factor mutation involved in hematopoiesis and angiogenesis that was first described in 2011. Clinical manifestations are variable, but patients are susceptible to recurrent serious and chronic infections (most commonly generalized warts and mycobacterial infection), myelodysplastic syndrome, leukemia, lymphedema, thrombosis, preterm labor and hearing loss. At diagnosis, patients are offered bone marrow transplantation for curative treatment. Due to the risk of gonadal failure, patients may elect to undergo fertility preservation. As discovery of the GATA2 mutation is relatively recent, oocyte cryopreservation has yet to be described in this population. Retrospective Case Series. Records were reviewed from nine GATA2 deficiency patients ages 16-32 who underwent fertility preservation from March 2015 to March 2017 at the National Institutes of Health. Three patients underwent two cycles of ovarian stimulation and six patients underwent one cycle. An antagonist protocol was used and each cycle involved recombinant follicle-stimulating hormone (FSH) and human menopausal gonadotropins (HMG). Ganirelix acetate 250mcg was started on cycle day 6 or when the lead follicle measured 14 mm. Human chorionic gonadotropin (hCG) 10,000 IU or Lupron 4mg was administered when at least 2 follicles were greater than 18mm. Oocyte retrieval was scheduled 36 hours later. Patient demographics: The mean age of patients was 24.7 years (R 16-32), mean Antral Follicle Count (AFC) was 26.7 (R 10-43), and mean AMH was 5.16 (R 0.7-10). Mean, median, and range were calculated in evaluation of the cryopreservation cycles (Table 1). This study is the first to analyze the outcomes of fertility preservation in GATA2 patients. The response to ovarian stimulation and oocyte yield suggests that fertility preservation in GATA2 patients is feasible and should be offered prior to transplantation.Table 1MeanMedianRangeBaseline FSH (IU/L)5.16.60.7-8.1Baseline Estradiol (pg/mL)31.527.8<5-45Day 6 Estradiol (pg/mL)555548111-1214Total FSH, IU17741775675-4035Total hMG, IU14121444375-2925Total Stimulation Days1111.57-14Estradiol on day of trigger(pg/mL)2267211060.7-4030Progesterone on the day of trigger(pg/mL)1.510.3-3.1Follicle number on day of trigger>12mm12.510.56-21Total Oocytes retrieved12.3124-28MII oocytes6.780-15 Open table in a new tab" @default.
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- W2752723060 date "2017-09-01" @default.
- W2752723060 modified "2023-10-15" @default.
- W2752723060 title "Fertility preservation for GATA2 patients" @default.
- W2752723060 doi "https://doi.org/10.1016/j.fertnstert.2017.07.544" @default.
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