Finding the way forward
Help your patients get the answers they need to understand their infertility.
Reproductive genetics involves a wide range of genetic tests that are carried out with the intention of informing people about the possible outcomes of current or future pregnancies. Infertility can be the result of genetic and nongenetic factors, and is often multifactorial, polygenic, or a combination of both. However, it has been confirmed that genes and specific mutations are associated with infertility phenotypes in men, women or both, and our knowledge of the nature of the basis of infertility is continuously growing.
Approximately 10% of infertility cases have a genetic etiology. The known genetic causes of infertility include chromosomal aberrations, variants of a single gene and phenotypes with multifactorial inheritance3.
A recent survey of published literature reported that more than 350 genes reported that they play a role in infertility and / or reproduction in humans4, with ~ 15% localization on the sex chromosome (X and Y). These genes represent a wide range of functions including sex hormones, organ development, growth and germ cell production.
Reasons for Reference
Individuals with presentation of the most common symptoms of infertility, such as amenorrhea, azoospermia, secondary sexual findings.
Individuals with a positive family history of infertility.
Individuals with no positive family history but with characteristic symptoms.
Individuals with a negative family history but suspicious to perform the appropriate genetic counseling (prenatal tests are recommended in the families of affected individuals).