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Is Infertility Genetic? Know About Genetic Causes of Infertility in Men and Women

There are many causes of infertility and gene is one of them. There are several genetic causes of infertility.

Chanchal Sengar
Written by: Chanchal SengarPublished at: Apr 08, 2022Updated at: Apr 08, 2022
Is Infertility Genetic? Know About Genetic Causes of Infertility in Men and Women

Infertility can be inherited, but it’s much more complex than that. There is no infertility gene, but more than half of the infertility cases are due to an underlying genetic condition, and in some instances, the genetic causes can be inherited. However, there are a lot of other contributing factors that can lead to fertility issues, like an unhealthy lifestyle. Becoming genetically aware will empower you and make you well-informed about your reproductive health. So, let’s get into some genetic disorders that can cause male and female infertility as explained by Dr. Shruti Ghate, Fertility Consultant at Nova IVF Fertility, Bhopal.

Genetic causes of infertility

Genetic causes of infertility in males

Male infertility is caused by low sperm quantity and quality, abnormal sperm function, and pain and swelling in testicle areas. These fertility problems are due to chronic illnesses, injuries, lifestyle choices, and genetics. The genetic conditions that may cause male infertility are;

  • Klinefelter Syndrome - Men with Klinefelter syndrome have extra X chromosomes which cause lower production of testosterone, leading to little or no sperm production.
  • Kallman Syndrome - Kallman syndrome causes hindrance in producing certain hormones that negatively impact sexual development, leading to infertility.
  • Y chromosome microdeletions - People with this condition are missing areas of their Y chromosomes, which may cause them to have little or no sperm production. Y chromosomes contain genes that are involved in the sperm’s development.
  • Mutations in Cystic fibrosis (CF) - Cystic fibrosis is a condition that typically affects the lungs and digestive tract. However, it also causes male fertility issues as it does not allow sperm to be transported by negatively impacting the vas deferens. 
  • Chromosome rearrangements - People with chromosome rearrangements pass down either too much or too little chromosomal material, leading to an increased risk of pregnancy loss, problems in conceiving, and congenital disabilities in the newborn.

Genetic causes of infertility in females

Female infertility can be caused by hormonal changes, menstruation and ovulation problems, endometriosis, and other reproductive health issues. Other factors influencing female fertility include age, weight, lifestyle, and genetics.

  • Endometriosis - In endometriosis, the tissue that is typically found in the uterus lining develops somewhere else in the body. This condition is inherited and is one of the leading factors causing fertility problems in women. Women with a family history of menstruation problems are also known to suffer from the same issues. For instance, polycystic ovary syndrome (PCOS) and PCOD can sometimes be hereditary, but other factors such as weight, diet, and lifestyle changes can also have an effect.
  • Turner Syndrome - Individuals with Turner syndrome are at an increased risk of ovarian insufficiency, which leads to fertility issues.
  • Fragile X Syndrome - Women with Fragile X syndrome are at a higher risk of primary ovarian insufficiency, which causes their ovaries to stop functioning before the age of 40. This leads to infertility problems and even high chances of birthing a child with intellectual disabilities.
Genetic causes of infertility 

Why is early check for infertility advisable for youth?

Various conditions that may lead to fertility problems such as low egg quality and quantity, low sperm count and quality, blocked or damaged fallopian tubes can happen to anyone, irrespective of family history. While most conditions that cause infertility are not inherited, understanding the potential causes of your infertility can help evaluate all your concerns regarding your fertility. If you have a family history of infertility, and you have not been able to get pregnant even after one year of trying, it is advisable to get a fertility check.  Genetic blood testing has various benefits as it answers your questions about your personal reproductive and family history. Genetic testing is usually recommended during fertility evaluation and fertility treatments.


Your fertility specialist will be able to provide the necessary guidance and support. Awareness is the first step towards finding solutions. Knowing genetics can play a role in fertility issues can help you detect the problems sooner rather than later.

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