Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction?

BMC Urol. 2020 Feb 27;20(1):21. doi: 10.1186/s12894-020-00587-5.

Abstract

Background: The purpose of this study is to evaluate the prognostic factors for sperm retrieval and determine if Y chromosome deletion is associated with deleterious effects on spermatogenesis in non-mosaic Klinefelter patients. Whether Y chromosome deletion determines the sperm retrieval rate in non-mosaic Klinefelter patients has not yet been addressed.

Methods: We retrospectively collected medical records of azoospermic patients from Sep 2009 to Dec 2018, and enrolled 66 non-mosaic 47, XXY patients who were receiving mTESE. The predictive values of patients age, serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, prolactin, estradiol and Y chromosome deletion were assessed for successful sperm recovery.

Results: Testicular sperm recovery was successful in 24 (36.4%) of 66 men. The mean age (36.0 vs. 36.6 years), and levels of FSH (30.0 vs 36.9 IU/L), LH (17.7 vs 21.9 IU/L), testosterone (2.4 vs. 2.1 ng/ml), prolactin (9.1 vs. 8.8 ng/ml), and estradiol (19.4 vs. 22.3 pg/ml) did not show any significant difference when comparing patients with and without successful sperm retrieval. Partial deletion of azoospermic factor c (AZFc) was noted in 5 (20.8%) of 24 patients with successful sperm retrieval, including three b2/b3 and two gr/gr deletion cases, whereas 4 (9.5%) of 42 patients with unsuccessful sperm retrieval were noted to have AZFc partial deletion (one b2/b3, one sY1206 and two gr/gr deletion), though the difference was not statistically significant (p = 0.27).

Conclusion: According to present results, age and AZFc partial deletion status should not be a deterrent for azoospermic males with non-mosaic Klinefelter syndrome to undergo mTESE.

Keywords: AZFc deletion; Age; Klinefelter; Microdissection testicular sperm extraction.

MeSH terms

  • Adult
  • Azoospermia / diagnosis
  • Azoospermia / genetics*
  • Azoospermia / surgery
  • Chromosome Deletion*
  • Humans
  • Klinefelter Syndrome / diagnosis
  • Klinefelter Syndrome / genetics*
  • Klinefelter Syndrome / surgery
  • Male
  • Microdissection / methods*
  • Retrospective Studies
  • Sperm Retrieval*
  • Spermatozoa / physiology*
  • Testis / physiology
  • Testis / surgery

Supplementary concepts

  • Y Chromosome Infertility