45,X karyotype in an infertile man: how is this possible?

Urol Int. 2015;94(4):488-90. doi: 10.1159/000365010. Epub 2014 Aug 20.


The case was male, 32 years old, with a nonobstructive azoospermia diagnosis and an initial 45,X karyotype. We evaluated by classical cytogenetic methods, C and NOR banding, fluorescent in situ hybridization, and polymerase chain reaction investigations. After investigation, we found the following karyotype: 45,X,dic(Y;22)(q11.223;p11.2). This investigation contributes to our understanding of how chromosome rearrangements can influence fertility processes and how important it is to perform a cytogenetic analysis in infertility cases.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, X*
  • Chromosomes, Human, Y*
  • Fertility / genetics*
  • Genetic Diseases, Y-Linked / diagnosis
  • Genetic Diseases, Y-Linked / genetics*
  • Genetic Diseases, Y-Linked / physiopathology
  • Genetic Predisposition to Disease
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infertility, Male / diagnosis
  • Infertility, Male / genetics*
  • Infertility, Male / physiopathology
  • Karyotyping
  • Male
  • Molecular Diagnostic Techniques
  • Phenotype
  • Polymerase Chain Reaction
  • Prognosis

Supplementary concepts

  • Spermatogenic Failure, Nonobstructive, Y-Linked