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Infertility and genetics: Understanding male and female factor infertility

Vicken Sahakian
05 Sep 2017

Intended parents who come to fertility clinics all over the world frequently ask their reproductive endocrinologists during consultations, “Is infertility genetic?” 

Infertility can be a heartbreaking discovery, and your doctors at Pacific Fertility Center Los Angeles are here to help you, wherever your fertility journey may lead you. Let’s dive into the basics of genetic factors behind infertility, and some examples of disorders that can cause both female or male infertility.

Genetic factors driving male and female infertility

Couples experiencing infertility can often be associated with genetic factors. From inherited chromosomal abnormalities to gene mutations, both males and females have different outcomes from both these factors. These include:

  • Deletion whereby a piece of a chromosome is missing
  • Inversion whereby the chromosome is upside down 
  • Mutation whereby there is a change in the gene’s DNA sequence
  • Aneuploidy whereby there are too many or too few chromosomes
  • Translocation whereby pieces of a chromosome are attached to the incorrect chromosome

Genetic disorders that cause female infertility

If there are endometriosis cases or early menopause apparent in their family, there will be an increased chance of difficulty conceiving for these women.

Some chromosomal abnormalities or gene mutations can cause female infertility, too, particularly affecting a woman’s ability to ovulate. Examples of both include:

  • Mutations in the cystic fibrosis gene can result in women with poor nutrition, resulting in thicker cervical mucus or ovulation issues.
  • Kallmann syndrome can cause female infertility due to their body’s inability to produce pituitary or hypothalamic hormone.
  • Primary ciliary dyskinesia is a chronic respiratory tract infection (diseases of the airways or parts of the lung) that cause infertility in women from abnormal cilia in the fallopian tubes.

Genetic disorders that cause male infertility

Some chromosomal abnormalities or gene mutations cause male infertility, particularly affecting the production or block the flow of sperm. However, male infertility due to mutations is far less common or not understood to the other’s extent. Examples of both include:

  • Mutations in the cystic fibrosis gene can result in the congenital absence of the vas deferens affecting the man’s flow of sperm.
  • Klinefelter syndrome is a condition experienced by men when they are born with an extra x chromosome affecting sperm and testosterone production.
  • Y chromosome deletion (a missing piece of the Y chromosome) can cause a man to be unable to achieve a normal sperm count.  

Infertility can rarely be attributed solely to genetic factors. In most cases, there are multiple causes of infertility. The more of these causes that can be identified and addressed, the more likely that infertility treatment will be effective. Fortunately, infertility treatment has come a long way throughout the years and continues to progress. Even genetic factors can now often be overcome with proper treatment protocols.

Why you should complete a genetic blood test

Before undergoing IVF or any other fertility treatment form, our doctors at Pacific Fertility Center Los Angeles will often advise intended parents to go through blood tests. Preimplantation genetic diagnosis (PGD/PGS/PGT-A) can often be used to prevent the passage of genetic disorders when used in conjunction with IVF. 

Some of the uses for PGD/PGS/PGT-A testing include: 

  • Discover any inherited health condition that you may not be aware of
  •  Learn about current genetic conditions that can affect your ability to conceive
  • Mitigate the risk of passing down genetic disorders to your children
  • Select the sex of your embryo for transferring during IVF

Learn More about Whether Infertility Is Hereditary

If you would like to learn more about the genetic factors that influence infertility, or you wish to schedule a consultation with one of our highly esteemed doctor’s, don’t hesitate to reach out.

Our doctors are board certified in Obstetrics and Gynecology, as well as Infertility and Endocrinology. They’ve taught at major medical schools, have won numerous awards, and have lent their expertise to the Discovery Channel and NPR. Get in touch, and learn more about what we can do for you.

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Note: This is not intended to be a substitute for professional medical advice, diagnosis or treatment. Information provided is for general educational purposes only and is subject to change without notice. Speak to your doctor directly with any questions you may have regarding a medical condition. Any information contained herein does not replace any care plan as determined by a physician. 

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