If you and your partner are struggling with infertility, you are not alone. Infertility is more common than you think. It’s a fact that 1 in 8 couples are struggling to conceive. Right from underlying hormonal imbalances to health conditions, it can seem that fertility challenges may have so many possible causes resulting from an issue with either you or your partner or a combination of factors that prevent pregnancy.
But does genetics also play a role? Let’s learn more.
Is infertility related to genetics?
The term “infertility” is not a strange word for those who have unsuccessfully been trying to have children. Simply put, the word “infertility” is defined as not being able to get pregnant despite having frequent, unprotected sex for at least a year for most couples or 6 months of trying if you’re over age 35. Out of all infertility cases, more than half of them are due to an underlying genetic issue. While the genetic cause could have been inherited this is not always the case. Both female and male factors account for approximately 1/3 of all cases of infertility. The remaining 1/3 of cases of infertility are due to either unknown causes or a combination of both male and female factors.
What disorders cause female infertility?
Several conditions can cause infertility in females. These can be either a mix of health conditions, structural changes and genetics which contribute to approximately 10% of female infertility.
Some of the conditions are:
Polycystic ovary syndrome (PCOS) - PCOS causes a hormonal imbalance that can interrupt the activity of your ovaries. When this happens, you may not ovulate each month, making it much harder to conceive.
Endometriosis - is when the tissue that typically lines your uterus grows on the outside of the uterus. It often affects other parts of the female reproductive system, leading to scarring and inflammation that can lower fertility.
Genetic disorders
A few genetic disorders that can contribute to infertility in females include:
Turner syndrome - In Turner syndrome, a female is born with an altered X chromosome or only one X chromosome (instead of two). One of the effects of this condition is that ovaries don’t develop properly.
Fragile X premutation - In the fragile X pre-mutation, a specific change is present in a gene called FMR1, which is found on the X chromosome. This genetic change causes the ovaries to be less productive, limiting fertility.
Kallmann syndrome - Kallmann syndrome can be caused by changes in several different genes. It can cause female infertility due to the body’s inability to produce pituitary or hypothalamic hormone.
What disorders cause male infertility?
Just like in females, genetic disorders can also cause infertility In males. Some of the genetic disorders are:
Klinefelter syndrome (KS) - Men with Klinefelter syndrome have an extra X chromosome (XXY). This can lead to lower production of testosterone, resulting in little or no sperm production.
Kallman Syndrome - Men with Kallman syndrome are unable to produce certain hormones that can impact sexual development and lead to infertility.
Cystic fibrosis (CF) - Cystic fibrosis is an inherited condition that affects the lungs and digestive tract, however, a few specific genetic changes in the gene for CF can affect male fertility by impacting the development of the vas deferens, which would not allow for sperm to be transported.
Y chromosome microdeletions - Individuals that are missing areas of their Y chromosomes, which contains genes that are involved in the growth and development of sperm, may have little or no sperm production.
Chromosome rearrangements - Individuals that carry chromosome rearrangements have an increased chance to pass down too much or too little chromosomal material, which could impact the ability to conceive a pregnancy, increase the risk of pregnancy loss, or result in offspring with birth defects or intellectual differences.
What about fetal loss? What causes it?
Genetic conditions can also lead to fetal loss. Many of these have to do with chromosomal changes in the fetus. In case you have been wondering, a person has 23 pairs of chromosomes, one of which is a set of sex chromosomes. For each pair of chromosomes, you get one from each of your biological parents. Since chromosomes have all of the genes necessary for life, significant changes to the chromosomes can have serious effects on a developing fetus.
How are the genetic conditions diagnosed?
When you’re having difficulty getting pregnant, a doctor can do a variety of tests to help see what’s causing your fertility troubles. These can include:
a thorough evaluation of you and your partner’s medical and sexual history
a physical examination
a semen analysis, which checks sperm count, shape, and movement
blood tests to check levels of different hormones or for signs of ovulation
imaging tests to look for structural issues in the reproductive system
Is there a treatment for genetic conditions that affect fertility?
If you’ve been diagnosed with a genetic condition that affects fertility, you might be wondering what your treatment options are. After finding out which type of condition is causing your fertility concerns, your doctor will walk you through your potential options. These can vary by individual as well as by the type of condition involved. Surgery is often used to address structural changes in the reproductive system that impact fertility. For instance, a procedure to allow sperm to pass more effectively through the male reproductive system or to remove a septum from the uterus.
For some people, it may still be hard to get pregnant naturally and at this point, a fertility specialist will recommend other medical solutions. These can be intrauterine insemination (IUI) or assisted reproductive technology, which includes things like in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). A part of this process includes preimplantation genetic testing (PGT), which is a diagnostic tool to screen your embryos for chromosomal abnormalities.
In summary
It’s a fact that genetics can cause infertility in both females and males. If you’re having trouble getting pregnant after 1 year of trying (or 6 months if you’re age 35 or over), make an appointment with your doctor. For each sex, there are several different types of health conditions or genetic disorders that can cause infertility. If you’re diagnosed with a genetic condition that affects fertility, your doctor will fill you in on potential treatment options.
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