Genetics is the cause of almost 10% of total infertility cases in couples.
The infertility cases usually consist (almost half of all the cases) of genetic related male infertility. Individuals who suffer from severe oligoasthenoteratospermia, obstructive azoospermia, nonobstructive azoospermia , oligoasthenoteratospermia and repetitive implantation failures carry risks in genetic aspects.
“azoospermia factor” in the long arm of Y chromosome or AZFa, AZFb and AZFc areas on “AZF” gene are related to male infertility.
1% to 2% of infertility in males is caused by congenital bilateral absence of the vas deferens (CBAVD). Genetic examination is applied to individuals who have cystic fibrosis or CBAVD diagnosed for cystic fibrosis transmembrane regulator (CFTR) gene mutations.
Genetic abnormalities in females can cause infertility by affecting reproduction cycle and/or hormone balance. These genetic findings include chromosomal irregularities and single-gene mutations. The most common cause of female infertility is chromosomal abnormalities and mutations in FMR1 gene in X chromosome which is responsible for Fragile X syndrome.
Fragile X syndrome is worldwide the most frequent genetic reason of autism and mental retardedness.
Fragile X carrier females do not show the syndrome’s symptoms but may be under risk for Fragile-X related disorders such as Ataxia Syndrome (FXTAS). More importantly, when reproduction considered, there is a risk for premature ovarian failure.This situation usually shows itself as lower AMH/higher FSH levels in routine infertility tests.
Number and structure of chromosomes can be detected by chromosomal analysis with cell culture obtained from peripheral blood of both male and female.