title: Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service.
abstract: OBJECTIVE
  To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia.
  
  
  METHODS
  Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine. Of these patients, 100 had severe oligozoospermia, and 43 non-obstructive azoospermia. All patients underwent a genetic study which included karyotype analysis and Y-microdeletion investigation.
  
  
  RESULTS
  Genetic abnormalities were found in 18.8% of the studied patients. Chromosomal abnormalities were found in 6.2% of the patients, being more prevalent in the azoospermia group (11.6%) than in the oligozoospermia group (4%). Chromosomal variants were found in 8.3%, and Y-chromosome microdeletions in 4.2% of patients.
  
  
  CONCLUSIONS
  The high frequency of genetic alterations (18.8%) in our series justified performing a genetic investigation in a population with idiopathic infertility, as results may help determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations such as genetic male infertility, mental retardation, genital ambiguity and/or birth defects.
authors.affiliation: Division of Pathological Gynecology and Human Reproduction, Department of Gynecology and Obstetrics, Santo Andre, Sao Paulo, Brazil.
authors.forename: Fernanda A
authors.initials: FA
authors.lastname: Mafra
authors.forename: Denise M
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.forename: Marcello M
authors.initials: MM
authors.lastname: Gava
authors.forename: Sidney
authors.initials: S
authors.lastname: Glina
authors.forename: Sintia I N
authors.initials: SI
authors.lastname: Belangero
authors.forename: Caio P
authors.initials: CP
authors.lastname: Barbosa
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics*; D012189:Retrospective Studies; D012720:Severity of Illness Index