The initial stage in identifying the causes of male infertility involves a comprehensive assessment of the patient's health status and medical history. The physician collects information about lifestyle, dietary habits, harmful habits, previous illnesses, surgical procedures, and medications. Family history of hereditary diseases and genetic factors that may affect reproductive health are also taken into consideration. This information helps identify potential risk factors and determine the most appropriate diagnostic tests.

Evaluating the health of both partners is essential when investigating the causes of infertility. Alongside the assessment of male reproductive function, the woman's reproductive health is evaluated through appropriate examinations. The physician may assess the menstrual cycle, ovulation, ovarian function, and other reproductive parameters. This comprehensive approach helps identify potential causes of infertility, interpret the findings collectively, and develop an appropriate diagnostic and treatment plan for the couple.

Physical and instrumental examinations are performed to assess the male reproductive system and identify abnormalities that may contribute to infertility. During the physical examination, the physician evaluates the size and condition of the testicles, epididymides, and other reproductive structures. When necessary, instrumental diagnostic methods, such as testicular and scrotal ultrasound, may be used. These examinations help identify varicocele, structural abnormalities, and other conditions that may affect reproductive function. The scope of the examinations is determined according to the patient's symptoms and initial assessment.

Semen analysis is one of the key tests used to assess male reproductive health. The analysis evaluates semen volume and other characteristics, including sperm concentration, total sperm count, motility, and morphology (shape). The results help assess sperm quality and identify potential reproductive problems. Patients should follow the laboratory's instructions regarding preparation and sample collection. If necessary, the test may be repeated to confirm the findings.

Hormonal testing is performed to evaluate male reproductive function and the hormonal mechanisms involved in sperm production. Depending on the physician's recommendations, laboratory tests may measure testosterone, follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin, and other relevant parameters. These tests help identify hormonal imbalances and investigate possible causes of abnormal semen parameters. The results are interpreted alongside the patient's symptoms, physical examination findings, and semen analysis to determine the next diagnostic and treatment steps.

Genitourinary tract infections may affect male reproductive health and semen parameters in some cases. Therefore, laboratory testing is performed when symptoms or clinical indications suggest a possible infection. Depending on the situation, urine, semen, or other appropriate samples may be collected. Specific tests may be used to detect bacterial infections and sexually transmitted infections. The physician evaluates the results and, when necessary, recommends an appropriate treatment plan. Early diagnosis helps protect reproductive health and reduce the risk of potential complications.

The 46,XX karyotype is a chromosomal pattern typically found in females. However, in some cases, this karyotype may also be identified in individuals with male sexual characteristics. This condition is known as 46,XX male syndrome and may be one of the causes of infertility in certain cases. During diagnosis, the number and structure of chromosomes are examined, and, when necessary, the SRY gene and other genetic markers are analyzed. This examination helps identify the genetic causes of reproductive problems and provides a basis for personalized medical counseling.

The 47,XYY karyotype is a genetic condition characterized by the presence of an additional Y chromosome in males. This karyotype may cause no noticeable symptoms in some individuals, while others may experience various developmental differences. From a reproductive health perspective, assessing semen parameters and reproductive function is important, as this condition may be associated with impaired spermatogenesis in some cases. Karyotype analysis helps identify chromosomal abnormalities, investigate potential genetic causes of infertility, and guide genetic counseling.

Y-chromosome deletions are genetic changes that occur when specific regions of the Y chromosome are missing. Deletions in the AZF region, which plays a key role in sperm production, are considered one of the significant genetic causes of male infertility. These changes may lead to a reduced sperm count or the complete absence of sperm in the ejaculate. Genetic testing is used to examine the relevant regions of the Y chromosome and assess any abnormalities identified. The results help determine the cause of infertility, evaluate reproductive treatment options, and explain the risk of passing genetic changes on to future generations.

The tubal-peritoneal factor is one of the potential causes of female infertility and is associated with problems affecting the patency of the fallopian tubes, the connection between the ovaries and the tubes, or tissues within the abdominal cavity. Infections, previous surgical procedures, and adhesions may affect tubal function. Diagnosis may involve ultrasound examinations and other instrumental investigations as indicated by the physician. Based on the results, changes that may interfere with fertilization are assessed, and an appropriate treatment approach is determined.

Endocrine or anovulatory disorders are characterized by hormonal imbalances and the absence or irregular occurrence of ovulation, the process by which an egg is released from the ovary. These conditions may cause menstrual irregularities and difficulties conceiving. The diagnostic process includes hormone testing, assessment of the menstrual cycle, and, when necessary, an ultrasound examination of the ovaries. The findings help identify the potential cause of the problem and develop an individualized treatment plan.

Changes in the structure of the uterus or its inner lining may affect embryo implantation into the uterine wall and the maintenance of pregnancy. These conditions include changes in endometrial thickness, intrauterine adhesions, and other structural abnormalities. Diagnosis may involve a gynecological examination, ultrasound, and additional instrumental investigations when necessary. The results help assess the condition of the uterus, identify potential problems, and determine an appropriate treatment approach.

Cervical factors include problems related to the structure, mucus characteristics, and function of the cervix. Changes in cervical mucus and certain anatomical abnormalities may affect the passage of sperm into the uterus. Evaluation includes a gynecological examination and, when necessary, laboratory tests to detect infections and other diagnostic investigations. Based on the findings, cervical-related problems can be identified and appropriate treatment recommendations provided.

Benign or malignant growths in the uterus and ovaries may affect reproductive health in various ways. Depending on their size, location, and characteristics, fibroids, ovarian cysts, and other growths may affect the menstrual cycle, ovulation, and the ability to conceive. Diagnosis may include a gynecological examination, ultrasound, and additional laboratory or instrumental investigations when necessary. After evaluating the characteristics of the growth, the physician determines whether monitoring, further investigations, or treatment is required.

Endometriosis is a condition in which tissue similar to the lining of the uterus grows outside the uterine cavity. It may be associated with pelvic pain, painful menstruation, and, in some cases, difficulty conceiving. Diagnosis involves assessing the patient's symptoms and medical history, as well as performing gynecological and ultrasound examinations. Additional diagnostic methods may be used when necessary. Based on the findings, the characteristics of the condition are assessed and a treatment plan tailored to the patient's needs is developed.

Congenital uterine anomalies are anatomical variations that develop during fetal formation of the reproductive system. These may include a septate uterus, a bicornuate uterus, and other atypical uterine shapes. In some cases, these variations may affect conception, the course of pregnancy, or childbirth. Diagnosis involves ultrasound examinations and, when necessary, more detailed instrumental investigations. The results help assess uterine anatomy, identify potential reproductive health risks, and determine an appropriate medical approach.

Pelvic ultrasound is performed to assess the condition of the female reproductive system and investigate potential causes of infertility. During the examination, the structure, size, and characteristics of the uterus, ovaries, and other relevant structures are evaluated. Doppler imaging is used to assess blood flow in the relevant blood vessels. This examination helps identify ovarian cysts, uterine fibroids, and other structural changes, as well as evaluate reproductive health. The results are interpreted by the physician alongside the patient's symptoms and findings from other examinations.

Ultrasound examinations of the thyroid and breasts are used to assess the structure of these organs and identify possible abnormalities. Thyroid ultrasound evaluates the gland's size, tissue structure, and the presence of nodules. Breast ultrasound helps detect cysts, nodules, and other structural changes. These examinations may be particularly valuable when comprehensively assessing hormonal disorders and conditions that could affect reproductive health. Depending on the findings, the physician may recommend additional laboratory tests or other diagnostic investigations.

Mammography is an X-ray examination of the breasts used to identify changes in breast tissue, including certain lesions that may be difficult to detect at an early stage. During the procedure, images of the breasts are obtained and evaluated by a radiologist. Mammography plays an important role in breast cancer screening based on age and individual risk factors. In younger women, ultrasound may be preferred depending on breast tissue density and clinical indications. The appropriate examination is selected according to the patient's age, symptoms, and the physician's recommendations.

Hysteroscopy is a diagnostic and, in some cases, therapeutic procedure that allows direct visualization of the uterine cavity using a specialized optical instrument. It is used to identify intrauterine adhesions, polyps, certain congenital uterine abnormalities, and other structural changes. Hysteroscopy is particularly valuable when investigating the causes of infertility, evaluating recurrent pregnancy loss, and clarifying suspected abnormalities within the uterine cavity. Depending on the findings, certain abnormalities may also be treated during the procedure when appropriate. The need for and method of the procedure are determined by a gynecologist.