Fertility preservation before hematopoetic stem cell transplantation: a case series of women with GATA binding protein 2 deficiency, dedicator of cytokinesis 8 deficiency, and sickle cell disease

Fertility Preservation

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VOLUME 1, ISSUE 3, P287-293, DECEMBER 01, 2020


Alexandra Aserlind, M.D., Anne Martini, D.O., Jiawen Dong, M.B., B.Chir., Jessica Zolton, D.O., Olivia Carpinello, M.D., Alan DeCherney, M.D.



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.



Main Outcome Measure(s)

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.

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.