Sperm retrieval from a male with the rare 47, XXYqs variant of Klinefelter syndrome for intracytoplasmic sperm injection: A case report

A 27-year-old man with nonobstructive azoospermia was diagnosed with Klinefelter syndrome (KS) with a satellite Y chromosome (47, XXYqs) by karyotyping. Genetic analysis revealed azoospermia factor c (AZFc) microdeletion of gr/gr deletion in the Y chromosome. Microdissection testicular sperm extraction (micro-TESE) was performed in bilateral testes. Very few seminiferous tubules were bilaterally observed, and a minute number of spermatozoa obtained from the left testis were cryopreserved. Histologic examination of the left testicular tissue revealed severe tubular atrophy with only Sertoli cells accompanied by Leydig cell hyperplasia. Oocyte harvest was conducted in his wife in two different cycles after ovarian stimulation, and intracytoplasmic sperm injection was performed for 24 oocytes (8 and 16 oocytes respectively) using thawed spermatozoa. Fertilisation was confirmed in total of 19 oocytes (79.2%), with 15 cleaved embryos (62.5%). Two cleavage-stage embryos were cryopreserved at day 2, but no blastocysts developed. Frozen-thawed embryo transfer was performed using two cleavage-stage (day 2) embryos; however, the wife did not conceive. In conclusion, spermatozoa were successfully obtained by micro-TESE from a patient with 47, XXYqs. Despite failure of conception, the fertilisation and cleavage rates were comparable or better than those reported in patients with "typical" KS.