[Genetic causes of male infertility].
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.
Ørstavik
Karen Helene
KH
Rikshospitalet, Avdeling for medisinsk genetikk, 0027 Oslo. k.h.orstavik@medisin.uio.no
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
D011944:Receptors, Androgen; D019005:Cystic Fibrosis Transmembrane Conductance Regulator