The Y chromosome-linked copy number variations and male fertility

C. Krausz, C. Chianese, C. Giachini, E. Guarducci, I. Laface, G. Forti

Research output: Contribution to journalArticlepeer-review


Since the first definition of the Azoospermia Factor (AZF) regions, the Y chromosome has become an important target for studies aimed to identify genetic factors involved in male infertility. This chromosome is enriched with genes expressed exclusively or prevalently in the testis and their absence or reduction of their dosage is associated with spermatogenic impairment. Due to its peculiar structure, full of repeated homologous sequences, the Y chromosome is predisposed to structural rearrangements, especially deletions/duplications. This review discusses what is currently known about clinically relevant Y chromosome structural variations in male fertility, mainly focusing on copy number variations (CNVs). These CNVs include classical AZF deletions, gr/gr deletion and TSPY1 CNV. AZF deletions are in a clear-cut cause-effect relationship with spermatogenic failure and they also have a prognostic value for testis biopsy, gr/gr deletion represents the unique example in andrology of a proven genetic risk factor, providing an eight-fold increased risk for Oligozoospermie in the Italian population. Studies on TSPY1 CNV have opened new perspectives on the role of this gene in spermatogenic efficiency. Although studies on the Y chromosome have importantly contributed to the identification of new genetic causes and thus to the improvement of the diagnostic work-up for severe male factor infertility, there is still about 50% of infertile men in whom the etiology remains unknown. While searching for new genetic factors on other chromosomes, our work on the Y chromosome still needs to be completed, with special focus on the biological function of the Y genes.

Original languageEnglish
Pages (from-to)376-382
Number of pages7
JournalJournal of Endocrinological Investigation
Issue number5
Publication statusPublished - May 2011


  • CNV
  • gr/gr deletion
  • Male infertility
  • Spermatogenesis
  • TSPY
  • Y chromosome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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