Infertility is an issue that many modern couples deal with. The major causes of infertility include age, health issues, and lifestyle habits. Gene mutations or structural anomalies in your DNA can cause genetic illnesses that impact on a variety of body processes. However, if caught early, most of them are curable. So, learn about the common genetic disorders that affect male and female fertility in this article. Schedule an appointment at Doral Health and Wellness – Women’s Health Center.

Genetic disorders that affect male infertility

Besides age, diet, lifestyle, and hormones, infertility can be caused by several genetic factors, including:

1. Klinefelter syndrome:

It is a genetic condition that occurs when an individual has an extra copy of the X chromosome instead of the typical XY sex chromosome, which creates XXY. People with this condition usually have male genitals and reproductive systems but experience hormonal and fertility issues because of their genetics. This condition occurs from a random genetic mutation. People with this condition usually experience azoospermia, a condition where there is no sperm in the ejaculation. They may also have poor testicular growth and low testosterone levels which affect their fertility. They also experience symptoms like low sex drive, lower muscle mass, decreased body hair, increased belly fat, etc.

Most people with this condition are not even aware of it until they take genetic testing through semen analysis. However, a person with this condition can consider a treatment like testicular sperm extraction (TESE), hormone supplementation, or medication to increase their chances of fertility.

2. Kallmann syndrome:

This is a genetic disorder that causes hypogonadotropic hypogonadism (HH), a condition when you have extraordinarily little sex hormones like testosterone, which results in delayed or absent puberty. This condition is also found in females as well. Males with Kallmann syndrome experience symptoms like impaired sense of smell, small penis size, hearing loss, partially descended testes, color blindness, etc.

3. Cystic fibrosis:

Studies found that 97 to 98% of men with cystic fibrosis are infertile because they develop abnormal vas deferens, a tube that carries sperm from the testicles to the penis, so without it, natural conception is impossible. Some people who have one copy of the CF gene mutation known as fibrosis carriers may also experience fertility issues. There are over 1000 mutations associated with cystic fibrosis and may not cause any symptoms, but still pass to their children. So, if both parents have CF genes, then, there’s a 1 in 4 chance that their child will have cystic fibrosis. Genetic testing before attempting or during pregnancy helps to detect this.

4. Y-chromosome microdeletions:

This is a group of genetic disorders that happen when the Y chromosome is missing in the genes. These conditions can affect sperm production and may cause low sperm count, azoospermia, and a high percentage of abnormal sperm. Except for infertility or certain cases, you won’t notice any symptoms that are linked with these disorders. Therefore, these are difficult to detect. Genetic testing along with a semen analysis can help you diagnose these conditions.

5. Chromosome rearrangements:

Y-chromosome microdeletion is also a type of chromosome rearrangement, where pieces of chromosomes are missing or in the wrong place. Some males experience azoospermia, oligospermia, or abnormalities that involve sperm morphology or motility due to these other chromosome rearrangements. These anomalies may involve sex chromosomes and other chromosomes. These chromosome rearrangements can be found with genetic testing in infertile men. Besides infertility, it also drops their testosterone levels.

Genetic disorders that affect female infertility

Like male infertility, genes also play a significant role in female infertility. Here are the common genetic disorders that lead to female infertility:

6. Turner’s syndrome:

This is a genetic disorder that affects females and causes one normal X chromosome instead of two. It’s a rare condition that affects 1 out of 2000 newborn females and happens randomly in utero.

Turner syndrome can be diagnosed with a karyotype test around puberty. Females with this condition experience symptoms such as absent puberty, short stature, underdeveloped ovaries, kidney abnormalities, and heart conditions. It can be treated with hormone replacement therapy along with assisted reproductive technology which can help them conceive.

7. Fragile X-associated primary ovarian insufficiency (FXPOI):

This is a genetic condition that affects ovary functions. It happens due to a gene mutation of the X chromosome. According to an estimation, 1 out of 200 females may have this genetic change that may lead to FXPOI, which means it is rare.

In addition to infertility, females can also experience symptoms such as irregular menstrual cycles, early menopause, and elevated levels of Follicle-Stimulating Hormone (FSH), a hormone that regulates the functions of the ovaries and the testes.

Genetic testing can detect this condition in infertile women. Women with FXPOI also have a higher risk of having a child with Fragile X syndrome, a more severe form of gene mutation that leads to intellectual disability.

8. Congenital adrenal hyperplasia (CAH):

Studies found that CAH can be the most common steroid genetic disorder that affects fertility. It can impact the adrenal glands, an essential gland of the endocrine system that is located above the kidneys and produces important hormones like sex hormones.

People with CAH may not have one of the enzymes required to make these hormones. It can easily be detected through genetic testing. Besides infertility, this condition causes symptoms like atypical genitalia, early onset of puberty, and excess body hair.

9. Chromosomal rearrangements:

Similar to male fertility, chromosomal rearrangements can cause gene disorders like deletion, translocation, duplication, inversion, and other abnormalities that negatively impact female infertility.

You experience symptoms like chromosomal anomalies including premature ovarian insufficiency, amenorrhea, and miscarriage. Genetic testing can detect these chromosome rearrangements and treatment like embryos created with IVF help females to correct the number and arrangement of chromosomes.

If you want to get tested for infertility, visit our clinic in Brooklyn for professional medical diagnosis and the latest medical treatment options for your fertility problems. At Doral Health and Wellness – Women’s Health Center, we have the best GYN doctor in Brooklyn, and we provide women with quality health care services. To schedule an appointment, you can visit us at 1797 Pitkin Avenue, Brooklyn, New York 11212 or call us on 1-347-384-5690. You can also visit our website at http://www.gynecologistbrooklyn.com/.