Genetic causes of male infertility.
Male infertility, affecting around half of the couples with a problem to get pregnant, is a very heterogeneous condition. Part of patients are having a defect in spermatogenesis of which the underlying causes (including genetic ones) remain largely unknown. The only genetic tests routinely used in the diagnosis of male infertility are the analyses for the presence of Yq microdeletions and/or chromosomal abnormalities. Various other single gene or polygenic defects have been proposed to be involved in male fertility. Yet, their causative effect often remains to be proven. The recent evolution in the development of whole genome-based techniques may help in clarifying the role of genes and other genetic factors involved in spermatogenesis and spermatogenesis defects.
Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090 Brussels, Belgium. Electronic address: Katrien.Stouffs@uzbrussel.be.
Katrien
K
Stouffs
Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090 Brussels, Belgium.
Sara
S
Seneca
Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090 Brussels, Belgium.
Willy
W
Lissens
D053713:Azoospermia / Q000175:diagnosis / Q000235:genetics; D015984:Causality; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics / Q000648:ultrastructure; D055028:Comparative Genomic Hybridization / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics; D013091:Spermatogenesis / Q000235:genetics
Anomalies chromosomiques; Chromosomal abnormalities; Deletion Yq; Infertilité masculine; Male infertility; Séquençage du génome entier; Whole genome-based techniques; Yq deletion