A healthy 27-year-old man with normal phenotype was referred for the evaluation of infertility. In his physical examination, right testis was 10 cc, left testis was 8 cc with grade 1 varicocele. Vasa deferentia were palpable on both sides. Consecutive two semen analyses of the patient revealed azoospermia with normal ejaculate volume. His serum FSH was 24.29 mIU/mL (1.6-12.4 mIU/mL) and total testosterone was 495 ng/dL (260-1600 ng/dL). The patient with the diagnosis of nonobstructive azoospermia (NOA) had a history of allogeneic bone marrow transplantation (BMT) from his sister due to chronic myeloid leukemia (CML). Karyotyping and Y chromosome microdeletion analysis, which are necessary for the evaluation of NOA, were done with peripheral blood leucocytes and buccal mucosa samples because of the probable change in peripheral blood leucocytes after allogeneic bone marrow transplantation. There was no family history of infertility.
The patient, who had the diagnosis of CML with positive Philadelphia (Ph) translocation in February 1999, was treated with Hydroxyurea 500 mg/day for two years. The patient was conditioned with cyclophosphamide 60 mg/kg for two days and TBI with a total dose of 12 Gy in 3 fractionated doses before BMT. In 2001, allogeneic BMT was performed. After allogeneic BMT, the patient was treated with 26 mg methotrexate and 30 gr IVIG. In cytogenetic analysis performed on cultured cells from bone marrow material before allogeneic BMT, no metaphases were examined. After BMT, cytogenetic analysis revealed 6 metaphases examined by trypsin GTG banding, and 4 of them had 46,XX chromosomal constitution.