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Infertility is the term used to describe the permanent inability to conceive a child naturally. Infertility is often confused with infertility, but from a medical point of view, they are two different states. Infertility is by definition irreversible and its causes are permanent. However, the state of infertility does not always mean that the couple will be completely deprived of the possibility of having children. What is the difference between infertility and infertility? What could be the causes of infertility? Are there any fertility treatment options?

Infertilityis a state of permanent inability to naturally have children. We talk about infertility when it is impossible to get pregnant and the causes of this condition are irreversible. Infertility is by definition incurable - this means that there are no treatments available for the causal treatment of infertility.

Infertility and infertility

The term infertility is commonly confused with infertility. From a medical point of view, these two conditions must be distinguished from each other.Infertility is a state of permanent lack of fertility. Infertility, on the other hand, is a temporary and reversible inability to conceive a child.

Unlike infertility, infertility can be treated causally.

The most common causes of infertilityare transient disorders (including hormonal disorders or those caused by chronic diseases). If they are cured, there is a chance that fertility will be restored.

The causes of infertilityare permanent and cannot be eliminated. The most common causes of infertility are genetic disorders or congenital defects of the reproductive system.

In the case of infertility, the inability to conceive naturally is irreversible.

Infertility - causes

Infertility is a condition that can lead to a wide variety of he alth conditions. Infertility may be caused by disorders of the production of reproductive cells and disorders of the development of the testicles and ovaries.

The cause of infertility is also abnormalities in the genital organs, which make it impossible to have sexual intercourse or (in the case of women) termination of pregnancy.

Primary and secondary infertility

Infertility can be broadly classified into primary and secondary:

  • Primary infertilityis a condition in which the inability to have children is congenital. The most common causes of primary infertility are genetic diseases or birth defects that permanently exclude the possibility of conceiving a child.
  • Secondary infertilityis a condition in which the fertility of a patient who was originally able to have children is permanently impaired. Secondary infertility may be caused by previous surgeries or complications of other diseases that lead to permanent loss of fertility.

Genetic diseases

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

  • gonadal deformation (testes or ovaries),
  • developmental disorders of the genital organs
  • or failure to produce reproductive cells (sperm or eggs).

Infertility is particularly common in the course of genetic diseases that affect the sex chromosomes (XX for a woman, XY for a man).

Turner syndrome

An example of a genetic disorder that can cause female sterility is Turner syndrome.

Women with Turner syndrome have only one sex chromosome (X instead of XX). Over 80% of patients with Turner syndrome have ovarian dysgenesis (or abnormal development), which prevents puberty and causes infertility.

Klinefelter syndrome

An example of a genetic syndrome that causes male sterility is Klinefelter's syndrome. This condition also causes an abnormal number of sex chromosomes: males have an extra X chromosome (XXY instead of XY).

The testes do not develop properly in the course of Klinefelter's syndrome. The testes are unable to produce normal sperm, and as a result, azoospermia, which is a lack of sperm in the ejaculation fluid, develops. Permanent infertility affects over 90% of patients with Klinefelter syndrome.

Congenital defects of the genital organs

Abnormalities in the structure of the reproductive system can occur in people with normal karyotype, without sex chromosome disorders. Birth defects of the genital organs and gonads occur in utero, and many of them are caused by unknown causes.

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

Birth defects causing male infertility

The defects underlying male sterilityinclude Testicular dysgenesis and congenital absence of vas deferens.

Bilateral congenital absence of vas deferens is a defect that may accompany mutations in the CFTR gene responsible for the development of cystic fibrosis.

Birth defects causing infertility in women

Birth defects causing infertility in women include: bilateral ovarian dysgenesis and uterine agenesis. An example of a female condition that causes numerous birth defects in the genital organs is the Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).

This disease does not develop the vagina and uterus, which results in permanent infertility despite the normal function of the ovaries.

Secondary infertility

Secondary infertility is a condition in which, as a result of a specific factor, the fertility of a person originally capable of having children is permanently damaged.

Secondary infertility may occur as a result of previous surgeries (most often in the case of extensive operations performed for oncological reasons), injuries and other medical conditions.

It is worth knowing that some infectious diseases may cause secondary infertility. One such example is the mumps virus, which can cause orchitis and epididymitis.

If both testicles are affected, infection can damage them permanently. Fortunately, complete infertility as a complication of mumps is extremely rare.

Infertility - diagnosis

Infertility diagnostics aims to establish an accurate diagnosis (including the differentiation with infertility), the causes of this condition and possible possibilities of supporting reproduction.

In some patients, diseases leading to infertility are discovered at the stage of childhood or during the diagnosis of the causes of delayed puberty.

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

Most genetic conditions (Turner-Klinefelter syndrome) that lead to infertility have other characteristic symptoms that allow early diagnosis. Sometimes, however, infertility is diagnosed only after long, unsuccessful efforts to conceive a child.

Differentiation of infertility with infertility

In order to diagnose infertility, we must first rule out the existence of conditions that can cause reversible impairment of fertility. It is therefore about the differentiation of infertility from infertility.

The basis of such diagnostics is a medical interview andphysical examination. The second order is:

  • full package of hormone tests,
  • tests for infectious diseases,
  • as well as imaging tests of the reproductive system.

Imaging tests

Some conditions causing infertility can be detected at the early stages of such diagnostics. Serious malformations of the organs of the reproductive system are usually detected by standard imaging tests (ultrasound).

If non-invasive testing proves insufficient, more advanced imaging methods of the reproductive system may be necessary (for example, in women - intra-uterine hysteroscopy).

Genetic research

Further steps in the diagnosis of infertility include the use of increasingly sophisticated diagnostic tests. The standard of fertility diagnostics are genetic tests, including the determination of the karyotype, i.e. the set of the patient's chromosomes. Sex chromosome disorders are one of the most common genetic causes of infertility.

Assessment of gonadal activity

If the results of genetic tests are correct and the structure of the reproductive system in imaging tests is not in doubt, it is necessary to evaluate the gonadal function.

Its purpose is to find out if, in the case of a woman, the ovaries are producing normal eggs, or if, in the case of a man, the testes are producing normal sperm.

Such diagnostics in women includes the assessment of the so-called ovarian reserve and numerous hormonal tests, incl. AMH hormone, which allows you to assess the pool of eggs in a woman's ovaries.

In the case of a man, it is necessary to test the semen with an assessment of the amount, structure and viability of the sperm it contains.

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 permanently excluded, does infertility completely destroy the chances of getting pregnant?

The answer to this question depends on the causes of the couple's infertility. In many patients, the chances of conceiving a child may be enabled by techniques of assisted reproduction (ART, colloquially in vitro).

People whose infertility is caused by a lack of reproductive cell production can take advantage of the procedures for donating these cells (sperm or egg).

In vitro fertilization can be a solution in couples who, despite having normal reproductive cells, cannotfertilization.

For example, in a woman with complete obstruction of the fallopian tubes, fertilization outside her reproductive system, followed by implantation of the embryo in the uterus, may create a chance of conceiving a child.

Unfortunately, despite the increasing advancement of assisted reproductive techniques, they are still not able to help all patients struggling with infertility. In some cases, the only chance to enlarge the family is adoption.

  • What are the causes of female infertility?
  • Diagnostics and methods of treating male infertility
  • Genetic male and female infertility
  • Immune infertility: causes and treatment of immune infertility

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