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Genetics of infertility

Genetics of infertility

What is infertility?

It is the condition of a couple having regular sexual intercourse for 12 months and not being able to get pregnant even though they do not apply protection. It is defined as primary infertility if no pregnancy has occurred before and as secondary infertility if at least one pregnancy has occurred whether it results in live birth or not. Male infertility mostly occurs due to low sperm concentration, azoospermia in the semen, movement and deformity, and high DNA damage. However, in the spermatogenesis process, molecular mechanisms that limit sperm development or mechanisms that prevent oocyte activation following fertilization are among the factors that prevent the spouses from having a baby.

Male infertility is due to many causes. Sperm production disorders, blockages in sperm ducts, presence of antibodies to sperm, testicular trauma, hormonal disorders, anatomical problems, Varicocele, past diseases, infections and certain drugs may cause infertility. Regardless of the cause, infertility is not easy to overcome. Many infertile men feel incomplete and unhappy. Some people think they have lost their manhood. These feelings are normal and the way to overcome them is to communicate with other people. Infertile couples should support each other to overcome these problems. It should be remembered that 90% of the causes of infertility can be treated and there are many treatment options.

Causes of male infertility

Testicular trauma, Mumps, Exposure to excessive heat, Radiation and environmental toxins, Alcohol, drugs and drugs, Systemic drugs, Anatomical disorders

  • Hypospadias
  • Retrograde Ejaculation
  • Vas deferens obstruction
  • Genetic causes
  • Y chromosome microdeletions (Yq AZFa, AZFb and AZFc (DAZ) region deletions occur in 7-10% of oligospermic men.)

Absence of congenital vas deferens with cystic fibrosis

  • Klinefelter syndrome (1/500 male)
  • LH and FSH receptor mutations
  • Endocrine disorders
  • Varicocele

Causes of Female Infertility

Because of the complex structure and functions of the female genital system, there are many reasons that may prevent pregnancy. These causes are generally related to ovulation, cervical problems (infection, tumor, secretion failure), uterine problems (deformities, fibroids), tube diseases (congestion, adhesion) and endometriosis, immune problems, disorders of reproductive organs, psychological and sexual problems.

Some of these reasons are common;

Fibroids: Non-cancerous formations originating from the muscle layer of the uterus. They can be of different numbers, sizes and shapes. While it is frequently seen in women of childbearing age, they usually do not cause any complaints. However, depending on their size, number and location, they may prevent the formation of pregnancy by affecting the internal cavity of the uterus and may cause miscarriages in the pregnancies that have occurred. Before the assisted reproductive techniques, women should be evaluated in detail for fibroids. If necessary, treatment for these may need to be planned first.

Endometriosis: Endometriosis is a disease that develops and functions in another region outside the uterus. This ectopic tissue, which is not located where it should be, functions during each menstrual period, leading to the development of cysts, adhesions and scar tissue in that region, causing normal function loss in the region where it develops. This may present as severe pain and infertility. Some other substances ectopically located in the abdominal cavity can cause ovulation disorders, ovarian dysfunction, and pregnancy retention problems, causing infertility.

Endometriosis is a disease that can be treated by medical or surgical methods. Clinical treatment of women with endometriosis and whether they want children is very important. Therefore, it is very important for the treatment success of women with infertile endometriosis who want to have a child that is planned in coordination with infertility treatments.

Ovarian cysts: Ovary cysts in the form of liquid-filled vesicles. It is very common in women of childbearing age and most of them are non-cancerous. They can affect fertility because they can disrupt ovulation and cause obstructive effects. The approach to ovarian cysts is related to the size and location of the cyst. Especially before treatment of infertile women, cysts should be evaluated both in terms of their potential for malignancy and infertility treatment to be applied. There may be a chance of medical treatment or in some cases it may be necessary to aspirate the cyst content or remove the cyst as a whole. It is important to evaluate all kinds of treatment options together with the infertility treatment to be selected in terms of planning the patient's health.

Polycystic ovary syndrome: Polycystic ovary syndrome is a clinical condition characterized by menstrual irregularity, obesity, increased acnes on the skin, increased male pattern hair, impaired FHS and LH hormone balance controlling ovulation, and polycystic ovary appearance on ultrasound. Polycystic ovary syndrome is a condition associated with some other endocrine diseases. Patients should be carefully evaluated for diabetes, especially because they show insulin resistance. Women with polycystic ovarian disease are at risk for infertility due to ovulation problems underlying the disease.

Pelvic adhesions: The ovaries, tubes and fibrotic tissue and scar tissues that occur around the uterus are called pelvic adhesions. Pelvic inflammatory disease, sexually transmitted diseases and previous operations are factors that can cause pelvic adhesions. It may also lead to pelvic adhesions in cases such as appendicitis rupture and endometriosis. Pelvic adhesions can lead to infertility following ovulation, causing the tubes to catch the egg and disrupt the orientation of the uterus to fertilize. Pelvic adhesions can be reopened with both open and closed surgical methods. However, as this surgical approach may lead to pelvic adhesions again, the patient should be evaluated on a case-by-case basis, and the patient-specific conditions should be decided with surgery or the patient should be directed to IVF method directly.

Premature ovarian failure: It is defined as the occurrence of menopause before the age of 40 years. Generally, the cause is unknown, but endocrine diseases such as genetic diseases, immune system disturbances and torpedo diseases can lead to premature ovarian failure.