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

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. Patient(s): Female patients with GATA2 deficiency, DOCK8 deficiency, and SCD aged between 13 and 38 years. Intervention(s): None. 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. Result(s): 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 antim€ ullerian hormone (0.85 ng/mL). Patients with GATA2 deficiency had the highest antral follicle count and antim€ ullerian 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. Conclusion(s):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. (Fertil Steril Rep Ò 2020;1:287-93. Ó2020 by American Society for Reproductive Medicine.

Embryo Cryopreservation in a Patient with Sickle Cell Disease Utilizing Letrozole and Enoxaparin: A Case Report

“…The physiology of OHSS includes increased vascular permeability because of rising levels of vascular endothelial growth factor (VEGF) [ 14 ]. VEGF is thought to rise in response to high levels of hCG either through pregnancy or due to utilization of hCG triggers for final maturation of oocytes [ 10 ]. Therefore, minimizing doses of hCG at the time of trigger of final oocyte maturation is important for those at risk of VTE.…”

“…A few case reports have utilized enoxaparin in sickle cell patients undergoing gonadotropin stimulation for fertility preservation [ 7 , 8 , 9 , 10 ]. In comparing our case to other case reports of patients undergoing fertility preservation procedures, our patient had similar oocyte yields with excellent fertilization and blastulation rates, offering reassurance that letrozole does not appear to affect oocyte maturity or embryo yield [ 12 ].…”

“…Not only is there concern due to the thrombotic risk to these patients but also the potential of exacerbation of vaso-occlusive pain episodes [ 7 ]. Previous case reports of women with SCD undergoing gonadotropin stimulation have utilized prophylactic dose enoxaparin to mitigate the risk of thrombotic events [ 7 , 8 , 9 , 10 ]. Aromatase inhibitors, i.e., letrozole, have been utilized to keep estradiol levels within the physiologic range throughout stimulation for patients undergoing ovarian stimulation [ 11 ].…”