What is Infertility, Principles, Diagnosis, and Treatment

There are important steps in our bodies to become pregnant. The brain produces reproductive hormones, the egg matures, and ovulation releases it. The fallopian tubes capture the egg, and the sperm cells from the male partner travel to fertilize the egg. The fertilized egg implants in the uterus, marking the beginning of pregnancy. Disruptions in this complex process can prevent pregnancy from occurring. However, not every failed attempt is considered infertility. Now, let’s examine what infertility is.

What is Infertility?

Infertility is a medical condition characterized by the inability to conceive after at least one year of regular and unprotected sexual intercourse. In individuals over the age of 35, an inability to conceive after more than six months is considered infertility. Infertility can arise due to health issues affecting you or your partner, or a combination of factors preventing pregnancy. However, there are many safe and effective treatment options that can increase the chances of pregnancy.

Types of infertility are defined according to different scenarios and experiences. The first type, known as primary infertility, includes individuals who have never had a child before. This type of infertility arises when a person or couple fails to achieve pregnancy after one year of regular and unprotected sexual intercourse (or six months if over 35). The other type is secondary infertility, which refers to the inability to conceive again after at least one successful pregnancy. Even if a previous pregnancy has occurred, if there are difficulties in achieving pregnancy again, this is termed secondary infertility.

Infertility is a common condition that affects both men and women equally. In the U.S., one in five women aged 15 to 49 struggles with primary infertility, while approximately one in 20 women faces secondary infertility. Globally, around 48 million couples are living with infertility, and according to the Ministry of Health in Turkey, approximately 2 million couples are reported to have difficulties in having children.

Risk Factors for Infertility

The factors causing infertility can sometimes affect only one partner, while in other cases, both partners may be affected. Risk factors for infertility include:

• Advanced age
• Eating disorders such as anorexia nervosa and bulimia
• Exposure to environmental toxins, such as chemicals, lead, and pesticides
• Excessive exercise
• Radiation therapy and chemotherapy
• Sexually transmitted infections
• Smoking and the use of tobacco products (These behaviors play a role in approximately 13 to 15 percent of infertility cases.)
• Substance abuse
• Being obese or underweight
• Abnormalities in the hormone-producing centers of the brain, such as the hypothalamus or pituitary gland
• Chronic health issues and diseases

These factors increase the risk of infertility and negatively affect reproductive ability.

Causes and Symptoms of Infertility

Factors contributing to infertility in women are quite diverse. Chronic diseases characterized by the presence of endometrial tissue, which lines the inside of the uterus, in areas outside the uterus such as the ovaries, fallopian tubes, or abdominal cavity—known as endometriosis (also referred to as chocolate cyst)—structural abnormalities of the vagina, uterus, or fallopian tubes, autoimmune diseases such as celiac disease or lupus, kidney diseases, pelvic inflammatory disease (PID), disorders of the hypothalamus and pituitary gland, polycystic ovary syndrome (PCOS), primary ovarian insufficiency or low egg quality, sickle cell anemia, uterine fibroids or polyps, thyroid diseases, and surgical procedures that block the passage of the egg from the ovary to the uterus, such as tubal ligation or salpingectomy, as well as genetic or chromosomal disorders, sexual dysfunction, congenital or surgical absence of the ovaries, irregular or absent menstrual periods are among these factors. These factors reflect the complexity and diversity of infertility issues in women.

In men, the most common cause of infertility is related to problems with sperm shape, motility, or quantity (low sperm count). However, factors such as varicocele, which is the enlargement of the veins surrounding the testicles, genetic disorders like cystic fibrosis, chromosomal disorders such as Klinefelter syndrome, high temperatures affecting the testicles due to wearing tight clothing, frequent use of hot tubs and saunas, or keeping computers or heating pads close to the testicles; injuries to the scrotum or testicles; low testosterone levels (hypogonadism); misuse of anabolic steroids; sexual dysfunction, such as erectile dysfunction, anejaculation, premature ejaculation, or retrograde ejaculation; undescended testicles; previous chemotherapy or radiotherapy; surgical or congenital absence of testicles; and previous surgical sterilization (vasectomy) are among the causes of infertility. The origins of infertility in men are also complex and may require intervention from a specialist.

How is Infertility Diagnosed?

The assessment of reproductive ability involves the regular maturation and fertilization of healthy eggs in women. This process requires your brain to send hormonal signals necessary for egg release. The egg must travel from the ovary through the fallopian tube to the lining of the uterus. Reproductive tests are conducted to detect any problems in these complex processes. These tests can also be used to identify or rule out potential issues:

• Pelvic Exam: Typically part of routine check-ups, it is used to detect ovarian cysts, sexually transmitted infections, uterine fibroids, structural abnormalities, or early signs of cancer.
• Blood Test: A blood test to check hormone levels can be used to determine if hormonal imbalances are present or if regular ovulation is occurring.
• Transvaginal Ultrasound: An ultrasound probe inserted into the vagina is used to observe potential issues in the reproductive system.
• Hysteroscopy: A thin, lighted tube (hysteroscope) is inserted into the vagina to examine the interior of the uterus.
• Saline Infusion Sonohysterogram (SIS): The uterus is filled with sterile saline and examined via transvaginal ultrasound.
• Sonohysterosalpingography (HSG): During the SIS procedure, the fallopian tubes are filled with saline and air bubbles to check for blockages.
• X-ray Hysterosalpingography (HSG): X-rays are used to track the dye injected into the fallopian tubes, helping to diagnose blockages.
• Laparoscopy: A tube (laparoscope) equipped with a thin camera is inserted into the abdominal cavity to identify issues like endometriosis, uterine fibroids, and tissue scars.

For men, infertility diagnosis aims to determine whether the individual can produce healthy sperm. Most reproductive tests investigate sperm-related issues.

These tests include:

• Semen Analysis: This test checks for low sperm count and low sperm motility. Some individuals may require a needle biopsy to collect sperm from their testicles for testing.
• Blood Test: A blood test can check thyroid and other hormone levels. Genetic blood tests look for chromosomal abnormalities.
• Scrotal Ultrasound: An ultrasound of the scrotum identifies varicocele or other testicular issues.

Infertility Treatment

Infertility treatment varies depending on the cause of infertility, its duration, your age, and your partner's age. Some causes of infertility may not be correctable. If pregnancy does not occur after one year of unprotected sexual intercourse, couples may still have a chance of pregnancy with infertility treatments known as assisted reproductive technologies (ART).

Infertility treatment for men may include the following for general sexual issues or healthy sperm deficiency:

• Lifestyle Changes: Changes such as having sex more frequently, timing intercourse closer to ovulation, regular exercise, and discontinuing medications that may affect fertility without a doctor's advice.
• Medications: Drugs to increase sperm count and improve the chances of successful pregnancy.
• Surgical Intervention: Surgical procedures such as significant varicocele repair, which may restore sperm passage.
• Sperm Retrieval Procedures: If ejaculation is not possible or if there is no sperm in the semen, sperm retrieval procedures may be used. These can also be applied when assisted reproductive techniques are planned and sperm counts are low or irregular.

Infertility treatment for women, particularly those with ovulation problems, may include the following:

• Fertility Medications: If ovulation is irregular or absent, these medications can stimulate the ovaries to release more eggs.
• Intrauterine Insemination (IUI): Healthy sperm is placed directly into the uterus around the time of ovulation.
• Surgical Procedures to Restore Fertility: Certain uterine conditions can be treated with hysteroscopy.

Assisted reproductive technologies (ART) encompass all fertility treatments where egg and sperm cells are processed by healthcare professionals. In vitro fertilization (IVF) is the most common ART method. In IVF, fertility medications help the ovaries produce more eggs. Mature eggs are retrieved. The eggs are fertilized with sperm in a laboratory setting. The fertilized eggs (embryos) are then placed into the uterus. Sometimes, other techniques such as intracytoplasmic sperm injection (ICSI) or assisted hatching are also used in the IVF cycle. There are also treatment options like donor eggs or sperm, gestational carriers, and genetic testing.

Infertility is a common and challenging experience for couples. However, many effective treatment options are available. Treatment can be successful when couples work collaboratively with healthcare professionals and follow personalized treatment plans. Individuals who have not achieved the desired pregnancy status after more than a year of regular and unprotected sexual intercourse should consult a specialist.