Abstract Introduction Microdeletions in the Azoospermia Factor (AZF) regions of the Y chromosome are well-known genetic causes of non-obstructive azoospermia (NOA). Deletions affecting both AZFb and AZFc regions (AZFbc) are associated with severely impaired spermatogenesis, and the likelihood of sperm retrieval in such cases is considered extremely low. Objective To present a rare case of successful sperm retrieval in a patient with partial AZFb and complete AZFc microdeletion, and to emphasize the clinical relevance of this uncommon genetic profile in male infertility management. Methods A 36-year-old male with a five-year history of primary infertility was evaluated for NOA. Hormonal analysis showed elevated FSH, normal LH, and low total testosterone levels. Scrotal ultrasonography revealed bilateral testicular atrophy. Karyotype analysis demonstrated a normal 46,XY profile. Y chromosome microdeletion testing identified deletions at loci sY1191, sY254, sY255, sY1291, and sY153, consistent with a partial AZFb and complete AZFc deletion. The patient underwent microdissection testicular sperm extraction (micro-TESE). The procedure was performed on the right testis, which was larger on physical examination. Dilated seminiferous tubules were selectively sampled under high magnification, and tissue was immediately evaluated by the embryology laboratory. A biopsy specimen was also obtained for histopathological analysis. Results During micro-TESE, a small number of immotile spermatozoa with severe morphological abnormalities were identified and subsequently cryopreserved. Histopathological evaluation revealed a Johnsen score of 2, consistent with Sertoli Cell Only (SCO) syndrome. Considering both the genetic and histological findings, the presence of sperm was highly unexpected. This case supports the possibility of rare focal spermatogenesis in men with AZFbc deletions, even in the presence of a severely compromised testicular environment. Conclusions Sperm retrieval in patients with partial AZFb and complete AZFc microdeletions is exceedingly rare. This case highlights that, despite a highly unfavorable genetic and histopathological prognosis, successful sperm retrieval is possible with advanced microsurgical techniques. It underscores the importance of individualized treatment planning and suggests that complete genetic infertility cannot be assumed solely based on AZFbc deletion status. Disclosure No
Özer et al. (Mon,) studied this question.