Many genetic disorders can alter chromosomes, affecting the development of eggs or sperm, causing infertility.
The World Health Organization (WHO) estimates that infertility affects 15% of couples of reproductive age in the world. The cause may be due to underlying diseases or hormonal imbalance. Some genetic conditions can also lead to infertility in women and men.
Female
Polycystic ovary syndrome (PCOS) and endometriosis are two common conditions that affect women’s fertility. The exact cause of the disease is unknown, but both PCOS and endometriosis are believed to have a genetic component. This means that if a close family member such as your mother, sister or aunt has PCOS or endometriosis, you are at higher risk.
Some genetic disorders occurs due to changes in DNA, affecting one or more genes, also making it difficult for women to conceive naturally. For example, girls with Turner syndrome have an altered X chromosome or only one X chromosome instead of two. One of the effects of this condition is primary ovarian insufficiency (POI), which means the ovaries stop working before the age of 40, eggs cannot develop normally and are not released monthly.
Kallmann syndrome results in the brain producing low levels of gonadotropin-releasing hormone (GnRH), causing delayed or no puberty.
Structural abnormalities in a woman’s reproductive system can also occur due to genetic factors that make conceiving or maintaining a pregnancy more difficult. One of the structural abnormalities that easily causes miscarriage is a septated uterus. The presence of a septum causes the fetus to have less space to develop, increasing the risk of multiple miscarriages.
Assisted reproductive methods such as IUI and IVF can help women who are infertile due to genetic conditions have children. Image: Mr. Ngoc
male
Many genetic disorders can reduce male fertility, with Klinefelter syndrome being the most common chromosomal cause of infertility. This syndrome occurs when men have an extra X chromosome, which interferes with sperm production.
Y chromosome microdeletion syndrome also affects sperm production, causing deformities, poor mobility, low sperm count, or even no sperm. Kallmann syndrome causes low GnRH production, leading to decreased production of the male sex hormone testosterone, impairing sperm production.
Genetics also affects the structure of the male reproductive system, hindering sperm production and transport, causing infertility.
Infertility patients may be prescribed tests by their doctors to screen for genetic diseases that may affect fertility or be passed on to children.
If a patient is diagnosed with infertility due to a genetic condition, treatment depends on the condition involved. Surgery can often address structural changes in the reproductive system such as helping sperm move more effectively or removing a septum from the uterus.
Men and women with Kallmann syndrome can be treated with hormone balancing therapy to get pregnant.
In cases where natural conception cannot be achieved, assisted reproductive measures such as intrauterine insemination (IUI), in vitro fertilization (IVF), and intracytoplasmic sperm injection (ICSI) are often prescribed. . Embryos are subjected to pre-implantation genetic testing (PGT) to screen embryos for chromosomal abnormalities, select healthy embryos to transfer to the uterus, and increase the rate of successful conception.