Live birth after intracytoplasmic sperm injection using self-sperm in a male with 46, XX karyotype resulting from complete chimerism following bone marrow transplant from a human leukocyte antigen matched sibling
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20263058Keywords:
Azoospermia, Complete chimerism, Bone marrow transplantation, ICSI, Thalassemia majorAbstract
Gonadal dysfunction and definitive infertility are common long-term non-malignant effects after bone marrow transplantation (BMT), particularly when chemotherapy is part of the conditioning regimen. We report a case of a 44-year-old male with a history of thalassemia major who underwent allogeneic bone marrow transplant at the age of 18 years from his human leukocyte antigen (HLA)-matched sister. He subsequently developed complete hematopoietic chimerism with a 46, XX karyotype and testicular failure secondary to chemotherapy. The patient presented with primary infertility and azoospermia. Medical management was continued for 10 months using gonadotrophins to stimulate spermatogenesis following which ICSI was done for the couple using self-semen to achieve live birth.
References
Rotz SJ, Hamilton BK, Wei W, Ahmed I, Winston SA, Ballard S, et al. Fertility potential and gonadal function in survivors of reduced-intensity hematopoietic stem cell transplantation. Transplant Cell Ther. 2024;30(5):534. e1-534.e13.
Rovó A, van Lint MT, Aljurf M, Salooja N, Sucak G, Hunter AE, et al. Ongoing chronic GvHD is the most harmful factor for sperm recovery in male survivors after allogeneic HSCT not conditioned with TBI. Blood. 2010;116(21):3449.
Howell SJ, Shalet SM. Testicular function following chemotherapy. Hum Reprod Update. 2001;7(4):363-9.
Howell SJ, Radford JA, Ryder WD, Shalet SM. Testicular function after cytotoxic chemotherapy: evidence of Leydig cell insufficiency. J Clin Oncol. 1999;17(5):1493-8.
Chiodi S, Spinelli S, Ravera G, Petti AR, Van Lint MT, Lamparelli T, et al. Quality of life in 244 recipients of allogeneic bone marrow transplantation. Br J Haematol. 2000;110(3):614-9.
Watson M, Wheatley K, Harrison GA, Zittoun R, Gray RG, Goldstone AH, et al. Severe adverse impact on sexual functioning and fertility of bone marrow transplantation, either allogeneic or autologous, compared with consolidation chemotherapy alone: analysis of the MRC AML 10 trial. Cancer. 1999;86(7):1231-9.
Curbow B, Somerfield MR, Baker F, Wingard JR, Legro MW. Personal changes, dispositional optimism, and psychological adjustment to bone marrow transplantation. J Behav Med. 1993;16(5):423-43.
Petti N, Anghel G, Schimberni M, De Rosa L, Mancini S, Metro G, et al. Successful paternity with microassisted fertilization after total body irradiation-based conditioning for autologous bone marrow transplantation. Hematol J. 2003;4(4):285-8.
Sugawara N, Tokunaga Y, Maeda M, Komaba R, Araki Y. A successful pregnancy outcome using frozen testicular sperm from a chimeric infertile male with a 46,XX/46,XY karyotype: case report. Hum Reprod. 2005;20(1):147-8.
eng J, Liu X, Chang L, Che G, Yang Q, Lai S, et al. Demystifying the gender of patient after allogeneic bone marrow transplantation from an opposite-sex donor: a case report. Medicine (Baltimore). 2025;104(27): e43146.
Nebesio TD, Torres-Martinez W, Rink RC, Eugster EA. Spurious case of XX maleness in a patient with a history of Wiskott-Aldrich syndrome. Endocr Pract. 2011;17(2): e1-e3.
Rovó A, Aljurf M, Chiodi S, Spinelli S, Salooja N, Sucak G, et al. Ongoing graft-versus-host disease is a risk factor for azoospermia after allogeneic hematopoietic stem cell transplantation: a survey of the Late Effects Working Party of the European Group for Blood and Marrow Transplantation. Haematologica. 2013;98(3):339-45.
Meistrich ML. Effects of chemotherapy and radiotherapy on spermatogenesis in humans. Fertil Steril. 2013;100(5):1180-6.
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