Recent advances in assisted reproductive technologies (ART) make it possible for many infertile men with severe male factor infertility to father children. However a significant proportion of infertile males with azoospermia and severe oligozoospermia have a genetic etiology for reproductive failure. Thus these technologies raise concerns about passing on genetic abnormalities to the offspring of these men. Thus, it is important for the clinicians involved in the treatment of these couples to initiate genetic evaluation and counseling prior to any assisted reproductive procedure. The three most common genetic factors related to male infertility are cystic fibrosis transmembrane conductance regulator gene mutations leading to congenital absence of the vas deferens (CAVD), chromosomal (karyotype) abnormalities and Y-chromosome microdeltions in the azoospermia factor Infertility can be associated with other far less common genetic conditions. Examples include Kennedy's disease, Kallman's syndrome, Prader Willi syndrome, Myotonic dystrophy and Kartagener's syndrome.
Latest Publications and Research on Genetics of Male InfertilitySingle nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome. - Published by PubMed
NPHP4 Mutation is Linked to Cerebello-oculo-renal Syndrome and Male Infertility. - Published by PubMed
First Study of Microdeletions in the Y Chromosome of Algerian Infertile Men with Idiopathic Oligo- or Azoospermia. - Published by PubMed
Insulin-like growth factor 2 and insulin-like growth factor 2 receptor gene polymorphisms in idiopathic male infertility. - Published by PubMed
A comprehensive review of genetics and genetic testing in azoospermia. - Published by PubMed