Abstract
This article reviews the genetic testing of infertility disorders. Genetic abnormalities can lead to disturbances of sexual development and hamper reproduction by influencing gamete production and maturation, fertilization, and embryonic development. Until now, the vast majority of detectable genetic abnormalities causing infertility were chromosomal abnormalities in both males and females. However, the number of monogenetic disorders, which play a role in disturbing fertility, such as single gene defects or complex disorders involving multiple genes in combination with environmental factors, is increasing. The common genetic causes of infertility in males are sex chromosomal abnormalities, Robertsonian translocations, cystic fibrosis transmembrane conductance regulator (CFTR) mutations, and Y chromosome microdeletions. In females, Turner syndrome, genetic causes of premature ovarian failure, such as fra(X) and complex disorders like polycystic ovary syndrome (PCOS), and endometriosis are the most prevailing. However, insight into the total impact of genetic abnormalities is increasing. This is because a growing number of mutations are detected among subfertile patients with an unknown etiology. Genetics is one of the most important yet under-emphasized causes of subfertility. Improved understanding of the genetics of infertility holds promise to define the etiology and counsel cases that were previously diagnosed with idiopathic infertility.
| Original language | English |
|---|---|
| Article number | 111 |
| Journal | OBM Genetics |
| Volume | 4 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1 Jan 2020 |
Keywords
- chromosome abnormalities
- Female infertility
- gene mutations
- genetic abnormalities
- genetic fertility screening
- male infertility
- Y-chromosome deletions