Y-chromosome Microdeletion and Male Infertility: a Systematic Review

  • Edgle Pedro de Souza Filho
  • Milton Ghirelli-Filho
  • Sally Lacerda-Pinheiro
  • Jucier Gonçalves Júnior Universidade Federal do Cariri - UFCA http://orcid.org/0000-0001-5077-7959
  • Ageu de Oliveira Saraiva
  • José Carlos da Silva Gonçalves
  • Modesto Leite Rolim Neto
  • Bianca Bianco


Objective: evaluate the current evidence regarding different aspects (Epidemiological, histological, physiological and genetic) of male infertility caused by Y-chromosome microdeletion.
Material and Methods: A systematic review of articles from January 1st, 1996 and February 28th, 2014 present in two databases: MEDLINE and SciELO. The search was performed with the MeSH descriptors "Y Chromosome", "Infertility” and Keyword "microdeletion". 

Results: The literature indicates that deletion of AZF, especially AZFc, is related to azoospermia, oligozoospermia or even infertility. The absence of other loci is also underlined by the evidence: AZFa, AZFb and AZFd, even though the prevalence rates are not equidistant. Surveys also show changes in the male hormone physiology varying the levels of testosterone/LH/FSH as well as modifying the gonadal morphology in individuals affected by Y-chromosome microdeletion.

Conclusion: More research is needed focusing on possible deletions that the Y-chromosome may suffer, giving emphasis on their clinical outcomes and correlations with infertility.

Aug 25, 2015
How to Cite
DE SOUZA FILHO, Edgle Pedro et al. Y-chromosome Microdeletion and Male Infertility: a Systematic Review. International Archives of Medicine, [S.l.], v. 8, aug. 2015. ISSN 1755-7682. Available at: <http://imed.pub/ojs/index.php/iam/article/view/1304>. Date accessed: 01 mar. 2021. doi: http://dx.doi.org/10.3823/1788.
Genetics & Genomics


Y-Chromosome, Infertility, Microdeletion, Male Infertility

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