What is it Infertility

April 15, 2022 11:53

November 25, 2022 14:02

Reading time: 7 minutes

What is Infertility

Before deciding on your treatment, be sure to consult with a specialist!

Infertility refers to the permanent inability to conceive a child naturally. The disease is by definition irreversible, and its causes are endless. Infertility is, by definition, incurable.

Infertility is a condition that can lead to a variety of diseases. Infertility can be caused by a violation of the production of reproductive cells and a violation of the development of the testicles and ovaries.

The cause of infertility is also abnormalities of the genitals because it is impossible to have sexual intercourse or (in the case of women) to become pregnant.

Primary and secondary infertility

Infertility can be broadly divided into primary and secondary:

  • Primary infertility is a condition in which the inability to have children is congenital. The most common causes of this are genetic diseases or congenital disabilities that permanently exclude the possibility of conceiving a child.
  • Secondary infertility is a condition in which the fertility of a patient who is initially able to have children is irreversibly impaired. The cause of this may be previous operations or complications of other diseases that have led to irreversible loss of fertility.

Genetic diseases

One of the causes of infertility may be genetic diseases. The cause of its genetic diseases may be:

  • Infertilité primaire et secondaire. Syndrome de Turner et de Klinefelter. Diagnostic et différenciation de l’infertilité. TraitementTalformation of the gonads (testicles or ovaries),
  • disorders of the development of the genitals;
  • or inability to produce reproductive cells (sperm or eggs).

Infertility is widespread in genetic diseases affecting the sex chromosomes (XX for women, XY for men).

Turner syndrome

An example of a genetic disease that can cause female infertility is Turner syndrome. Women with Turner syndrome have only one sex chromosome (X instead of XX). More than 80% of patients with Turner syndrome develop dysgenesis (abnormal development) in the ovaries, which prevents puberty and causes the disease.

Klinefelter syndrome

An example of a genetic syndrome that causes male infertility is Klinefelter syndrome. This condition also causes an abnormal number of sex chromosomes: men have an extra X chromosome (XXY instead of XY).
Testicles do not develop appropriately in Klinefelter syndrome.

The testicles cannot produce normal sperm, which leads to the development of azoospermia, that is, a lack of sperm in the ejaculatory fluid. Permanent infertility affects more than 90% of patients with Klinefelter syndrome.

Congenital malformations of the genitals

Disorders in the structure of the reproductive system can occur in people with a normal karyotype without violating the sex chromosomes. Congenital disabilities of the genitals and gonads happen in the womb; many of them are unknown.

The most common disorders of reproductive system development are agenesis (complete absence) or dysgenesis (abnormal growth) of individual organs.

Congenital disabilities that cause male infertility

The causes include:

  • Testicular dysgenesis and congenital absence of the ejaculatory duct;
  • Bilateral congenital absence of the vas deferens – is a defect that may accompany mutations of the CFTR gene responsible for the development of cystic fibrosis.

Congenital disabilities that cause infertility in women

Congenital disabilities that cause infertility in women include bilateral ovarian dysgenesis and uterine agenesis.

An example of a female condition that causes multiple congenital disabilities of the genitals is the Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). With this disease, the vagina and uterus do not develop, which leads to permanent infertility, despite the normal function of the ovaries.

Secondary infertility

Secondary infertility is a condition in which, as a result of the action of a particular factor, the fertility of a person who is initially able to have children is irreversibly disrupted.

The pathology can occur due to surgical interventions (most often in the case of extensive operations performed for oncological reasons or surgical abortion), injuries, and other painful conditions.

It is worth knowing that some infectious diseases can cause secondary infertility. One example is the mumps virus, which can cause orchitis and epididymitis. If both testicles are affected, the infection can damage them forever. Fortunately, complete infertility as a complication of mumps is extremely rare.

Infertility – diagnosis

The diagnosis aims to establish an accurate diagnosis (including differentiation diagnosis), the causes of this condition, and the possibilities of reproduction support. In some patients, diseases leading to infertility are diagnosed as early as childhood or when diagnosing the causes of delayed puberty.

For example, prolonged amenorrhea in a teenage girl may be the first sign of abnormalities in the development of the genitals.

Most genetic conditions (Turner syndrome, Klinefelter syndrome) that lead to infertility have other characteristic symptoms that allow diagnosis at an early stage. However, sometimes the disease is diagnosed only after long unsuccessful attempts to conceive a child.

Differentiation of infertility

To diagnose the pathology, first of all, it is necessary to exclude the presence of conditions that can cause reversible fertility disorders. This diagnosis is based on a medical history and a medical examination. Secondly, the following are performed:

  • Сomplete package of hormonal tests;
  • Tests for infectious diseases;
  • As well as imaging studies of the reproductive system.

Visual research

Some conditions that cause infertility can be detected at an early stage of diagnosis. Severe malformations of the reproductive system organs are usually detected using standard imaging techniques (ultrasound).

If non—invasive tests are not enough, more modern methods of imaging the reproductive system may be required (for example, in women – intrauterine hysteroscopy).

Genetic research

Further steps in the diagnosis of infertility include using increasingly complex diagnostic tests. The standard for infertility diagnosis is genetic testing, including the determination of the karyotype, that is, the set of chromosomes of the patient. Disorders of the sex chromosomes are one of the most common genetic causes of infertility.

Evaluation of gonad function

Suppose the results of genetic tests are expected normal, and the structure of the reproductive system is not in doubt during visualization. In that case, it is necessary to evaluate the function of the gonads. His goal is to determine whether the ovaries produce regular eggs in a woman and a man — normal sperm in the testicles.

This diagnosis in women includes an assessment of the so-called ovarian reserve and numerous hormonal tests, including the hormone AMH, which allows you to estimate the number of eggs in a woman’s ovaries. In the case of a man, it is necessary to conduct a sperm analysis to assess the number, structure, and viability of the spermatozoa contained in it.

Infertility — treatment options

The definition of infertility excludes the possibility of causal treatment of this condition. The causes of infertility, such as genetic disorders or abnormalities in the structure of the reproductive system, are irreversible. Since the possibility of natural conception of a child is forever excluded, does infertility destroy the chances of getting pregnant?

The answer to this question depends on the causes of the pathology of the couple. In many patients, the chances of conceiving a child can be increased with the help of assisted reproductive technologies (ART, colloquially in vitro).

If you are infertile due to the inability to produce germ cells, there are procedures for donating these cells (sperm or eggs).

In Vitro fertilization can help couples who, despite having normal reproductive cells, cannot fertilize.
For example, in a woman with complete obstruction of the fallopian tubes, fertilization outside her reproductive system, followed by implantation of an embryo into the uterus, may create a chance to conceive a child. Unfortunately, despite the growing development of assisted reproductive technologies, they still cannot help all patients struggling with infertility. In some cases, adoption remains the only chance to replenish the family.


  1. Infertility FAQs. Centers for Disease Control and Prevention
  2. Infertility. 18 February 2020. NHS
  3. Infertility Causes. Cleveland Clinic medical professional on 12/13/202