Fertility preservation before hematopoetic stem cell transplant: A case series of women with GATA2 deficiency, DOCK8 deficiency, and sickle cell disease

Abstract Objective To describe fertility characteristics, outcomes of oocyte cryopreservation cycles, and safety of ovarian stimulation in patients with GATA2 deficiency, DOCK8 deficiency and sickle cell disease preparing for hematopoetic stem cell transplant (HSCT). Design Retrospective case series Setting The National Institutes of Health Patients Female patients with GATA2 deficiency, DOCK8 deficiency and sickle cell disease aged between 13 and 38 Interventions None Main Outcome measures Demographic and ovarian reserve parameters, stimulation outcomes, and adverse event occurrences were collected through chart review. Descriptive statistics were utilized to identify trends within disease subcategories. Results Twenty-one women with GATA2 deficiency, DOCK8 deficiency and sickle cell disease (SCD) underwent fertility preservation prior to HSCT. DOCK8 deficiency patients had the lowest mean age (16.5 years-old) and AMH (0.85 ng/mL). GATA2 deficiency patients had highest AFC and AMH (25.77 and 5.07 ng/mL, respectively). Baseline FSH, LH and E2 were comparable between the cohorts. The duration of stimulation was similar (10.43 to 11.25 days) across all groups. Comparable peak E2 levels were achieved across the cohorts. Patients with SCD had the highest 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, though adverse events must be considered. Following the outcomes of gamete utilization in this cohort will serve to further our knowledge of the true reproductive potential of this population.