title: [Genetic causes of male infertility].
abstract: BACKGROUND
  Male infertility is due to genetic factors in 15% of cases. Identification of genetic causes is important for both prognosis and treatment. The article gives an overview of the most frequent genetic causes of male infertility.
  
  
  METHODS
  The article is based on literature retrieved through a search of Pubmed.
  
  
  CONCLUSIONS
  Klinefelter syndrome, 47, XXY, and microdeletion in AFZ (azoospermia factor) c on the long arm of the Y chromosome are the most common genetic causes of male infertility. Both are present in about 10-15% of males with azoospermia. Other important genetic causes are cystic fibrosis and androgen insensitivity syndrome. Men with azoospermia may become fathers using new reproductive techniques. The infertility may therefore be passed on to the next generation.
authors.affiliation: Rikshospitalet, Avdeling for medisinsk genetikk, 0027 Oslo. k.h.orstavik@medisin.uio.no
authors.forename: Karen Helene
authors.initials: KH
authors.lastname: Ørstavik
mesh_terms: D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D007248:Infertility, Male / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D007713:Klinefelter Syndrome / Q000150:complications; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics; D011379:Prognosis; D011944:Receptors, Androgen / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D011944:Receptors, Androgen; D019005:Cystic Fibrosis Transmembrane Conductance Regulator