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.
Written by:
Stouffs K, Seneca S, Lissens W. Are you the author?
Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090 Brussels, Belgium.
Reference: Ann Endocrinol (Paris). 2014 Apr 23. pii: S0003-4266(14)00023-7.
doi: 10.1016/j.ando.2014.03.004
PubMed Abstract
PMID: 24768008
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