Is Infertility Genetic?

By Nicholas White

According to the World Health Organization, about 15% of married couples experience infertility. Men often face it due to abnormal sperm morphology and ejaculation problems. Pathologies of the uterus, uterine tubes, ovaries, etc. provoke infertility in women.

What is Infertility

Infertility is usually defined as the inability of sexually active men and women of reproductive age to conceive a child for more than a year. It is characterized by the presence of an obstacle to the implementation of reproductive function. The problem can radically change a person’s life, disrupt the psycho-emotional state, and cause discord in family life.

Primary infertility

Primary infertility is diagnosed if a woman has never become pregnant.

Secondary infertility

Secondary infertility (accounts for 65%) differs from primary infertility by the presence of at least one pregnancy and childbirth in the anamnesis (patient’s medical history).

Can Infertility Be Genetic?

Many people think about the issues “Is female infertility genetic?”, “Is male infertility genetic?”, and so on. Practice shows that in approximately 45–50% of cases, infertility is of genetic origin.

Male Infertility

Male infertility is the inability to impregnate a woman, regardless of the possibility of sexual relations. Is being infertile genetic? Inheritable factors account for at least 30–50% of all cases of severe male infertility. Spermatogenesis is a complex biological process that depends on a precisely controlled cascade of activation and deactivation of specific genes.

The result of the work of these genes is the process of sperm maturation from precursor cells (spermatogonia). In humans, more than 2000 genes are involved in this process. Due to genetic conditions, various forms of infertility can occur.

There are three main inheritable factors for male infertility:

  1. Changes in the genetic apparatus at the chromosome level (chromosomal aberrations);
  2. At the level of a gene or group of genes (mutations);
  3. At the level of total DNA (DNA fragmentation and chromatin dispersion).

In this regard, standard morphological and biochemical tests for male infertility should be supplemented by the use of molecular cytogenetic and molecular genetic methods that allow for assessing the state of the genetic apparatus of somatic and germ cells in men.

Female Infertility

Female infertility is a pathological condition in which the patient is unable to conceive a baby within 12 months of regular attempts. Is infertility a genetic disorder in women? Just like in men, infertility in women can be a genetic condition. It usually develops due to impaired endometrial receptivity, mutations in genes responsible for homeostasis, fragile X chromosomes, the formation of eggs with numerical chromosomal abnormalities, etc.

Genetic Infertility Causes

You have already received the answer to the question is infertility a genetic disease in the paragraphs above. But keep reading and learn about its medical causes, as well as effective treatments.

Chromosomal abnormalities

Among men with impaired reproductive function, chromosomal changes are detected in 5-15% of cases. 75% are due to abnormalities of sex chromosomes X and Y (gonosomal abnormalities), 25% are due to abnormalities of autosomes. The most common sex chromosome abnormality is Klinefelter’s syndrome.

This is a male genetic disease characterized by the presence of an additional female sex chromosome X. The human genome includes 46 chromosomes. The karyotype of patients with Klinefelter syndrome is 47XXY.

Infertile women are often diagnosed with Turner syndrome. This is a chromosomal disorder associated with complete or partial monosomy on the X chromosome, which can lead to a number of clinical manifestations including uterine hypoplasia, primary amenorrhea, underdeveloped mammary glands, etc.

Gene mutations

A gene mutation is a permanent change in the DNA sequence that makes up a gene. Such mutations can affect from one structural element of DNA (base pairs) to a large segment of a chromosome containing a number of genes.

Cystic fibrosis is an example of a gene mutation that can have a bad impact on fertility. This is a common genetic disease affecting many organs and systems. Its manifestations are varied (pulmonary, intestinal, unspecified etiology, etc.), which greatly complicates diagnosis. The disease develops as a result of a mutation in a gene located on the long arm of chromosome 7. It is transmitted in an autosomal-receptive manner when two mutant genes are inherited.

Polycystic Ovary Syndrome (PCOS)

PCOS is a common hormonal disorder characterized by the increased size of the ovaries and the presence of numerous cysts. Its reasons are not fully known. But it is believed that polycystic syndrome develops against the background of genetic characteristics as a result of the influence of unfavorable factors. Heredity manifests itself in the disruption of various endocrine links.


Endometriosis can begin with the first menstrual period and continue until menopause. This is a pathological condition caused by the proliferation of endometrial cells outside the uterus. A woman may not suspect for years that she is a carrier of a dangerous pathology but cells continue to spread throughout the pelvic cavity through the blood and lymph. As a result, the process can cause severe pain in the pelvic area and make it difficult to become pregnant. Family history significantly contributes to the disease development.

Genetic Testing and Infertility

If you want to become a parent and begin your journey into an exciting life with children, you need to consider genetic testing. With the current level of technology development, diagnosing gene disorders does not pose any particular difficulties. But it allows people to plan the conception of a healthy child and prevent further transmission of hereditary pathology.

Infertility Treatment and Management

There are many different treatment options depending on potential risk factors and genetic testing results. You don’t need to check how each one works. It is better to contact a healthcare provider, find out whether is infertility hereditary, and get the treatment that is most suitable for your case.

IVF with PGT

IVF is not only a highly effective method of treating infertility but also an auxiliary method for diagnosing many hereditary diseases before pregnancy. Preimplantation genetic (PGT) screening is an additional procedure to assisted reproductive technologies. The main advantage of this method is the absence of selective abortion, as well as the high probability of having a child without a diagnosable genetic disease.

Donor sperm/eggs

Using donor sperm/eggs is another good way to give birth to a healthy baby. It is effective when specific problems are detected in sperm production or eggs.

Gene therapy

Gene therapy is considered a universal approach to treating a wide range of diseases, including infertility. This is a way to restore the functioning of cells in which some genes are missing or working incorrectly.


Medication is also an important infertility treatment option worth mentioning. Hormonal drugs are often used by men with a deficiency of the endogenous hormone Testosterone. They stimulate metabolic and regenerative processes well. Clomid, which belongs to the group of antiestrogens, can be recommended for women. It is effective in treating infertility, ovarian disorders, etc.

Any medications, vitamins, and dietary supplements must be used as prescribed by a doctor. Self-medication is not only ineffective but also unsafe.


Does infertility run in the family? Yes, genetic inheritance is a common cause. But modern technologies offer many unique methods of examination and treatment that allow people with genetic conditions to give birth to a healthy baby.


What causes infertility genetically?

Chromosomal abnormalities, gene mutations, polycystic ovary syndrome, and endometriosis are widespread genetic conditions that cause infertility.

Is poor fertility genetic?

Poor fertility may have a genetic basis. But it can also be caused by early menopause, hormonal imbalances, diabetes mellitus, and other medical conditions.

Do you inherit your mother’s fertility?

You can inherit your mother’s fertility, but this is not always the case. You may also inherit genes from other members of your family with fertility problems.

Who is more likely to be infertile?

Infertility occurs with equal frequency in both women and men. Genetics plays an important role in the development of this condition.