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

Alexandra Aserlind; Anne Martini; Jiawen Dong; Jessica Zolton; Olivia Carpinello; Alan DeCherney

doi:10.1016/j.xfre.2020.10.001

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

F S Rep. 2020 Oct 10;1(3):287-293. doi: 10.1016/j.xfre.2020.10.001. eCollection 2020 Dec.

Authors

Alexandra Aserlind¹, Anne Martini², Jiawen Dong³, Jessica Zolton², Olivia Carpinello², Alan DeCherney²

Affiliations

¹ Department of Obstetrics, Gynecology and Reproductive Services, University of Miami/Jackson Memorial Hospital, Miami, Florida.
² Program in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
³ School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.

Abstract

Objective: 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).

Design: Retrospective case series.

Setting: The National Institutes of Health.

Patients: Female patients with GATA2 deficiency, DOCK8 deficiency, and SCD aged between 13 and 38 years.

Interventions: None.

Main outcome measures: 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.

Results: 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.

Conclusions: 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.

Keywords: DOCK8 deficiency; Fertility preservation; GATA2 deficiency; hematopoetic stem cell transplantation; sickle cell disease.