Anomalies of the Y Chromosome

  • Matheus Roque
  • Igor Faria Dutra


Genetic abnormalities may be associated with problems in the production and transport of sperm and may be present in the form of chromosomal, genetic, nucleotide, or epigenetic modifications and may represent one of the most clinically important aspects of male factor infertility. When compared to fertile men, patients with nonobstructive azoospermia or severe oligozoospermia (<5 million/mL) have a higher risk of presenting with a genetic abnormality. However, even when considering that many azoospermic and oligozoospermic patients present with a genetic predisposition to infertility, the cause (in most cases) remains unknown. Although rare in the general population, Y-chromosome microdeletions may be present in up to 7% of severe oligozoospermic and in approximately 15% of azoospermic men. In general, patients presenting with a Y-chromosome microdeletion are asymptomatic, although they may present with a reduction in testicular volume. Sperm retrieval procedures should be avoided in AZFa patients, and there is controversy as to whether it should be performed in AZFb and AZFbc patients; further, sperm can be found in around 50–70% of patients with AZFc. Performing ICSI procedures with sperm from patients presenting with Y-chromosome microdeletion does not increase the risk of complications to the offspring.


Y chromosome anomalies Azoospermia Oligozoospermia Male infertility Testicular sperm extraction (TESE) Intracytoplasmic sperm injection (ICSI) Genetic counseling Sperm retrieval 


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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Matheus Roque
    • 1
  • Igor Faria Dutra
    • 2
    • 3
  1. 1.Department of Reproductive MedicineMater Prime – Reproductive MedicineSão PauloBrazil
  2. 2.Department of Reproductive MedicineORIGEN-Center for Reproductive MedicineRio de JanieroBrazil
  3. 3.Department of Surgery, Division of UrologyAntonio Pedro University Hospital, Fluminense Federal UniversityRio de JanieroBrazil

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