Azoospermia

Azoospermia is a severe form of male infertility, characterized by the complete absence of sperm in the semen. It affects approximately 1% of men and is found in approximately 10–15% of men evaluated for infertility. Azoospermia can be distinguished into two main types: obstructive and non-obstructive. Each type has different causes and requires different methods of investigation and treatment.

Types of Azoospermia

Non-Obstructive Azoospermia (NOA): Non-obstructive azoospermia is due to a problem in sperm production in the testicles. This may result from some dysfunction in spermatogenesis, that is, in the process of sperm production.
Obstructive Azoospermia (OA): Obstructive azoospermia occurs when there is a physical obstruction in the reproductive system that prevents the transport of sperm. Sperm are produced normally in the testicles, but cannot exit due to the obstruction.

Causes of Azoospermia

The causes of azoospermia can be genetic or acquired and may be related to problems at different stages of spermatogenesis or sperm transport.

1. Genetic Causes:

Klinefelter Syndrome (47,XXY): A chromosomal abnormality where men have an extra X chromosome, affecting sperm production.
Y Chromosome Microdeletions: Microdeletions in specific regions of the Y chromosome (AZF) can disrupt spermatogenesis.
Cystic Fibrosis and Absence of Vas Deferens: Men with cystic fibrosis may have obstructive azoospermia due to absence of the vas deferens.

2. Acquired Causes:

Hormonal Disorders: Disorders in hormones that regulate spermatogenesis, such as FSH and LH, can cause non-obstructive azoospermia.
Surgical Procedures: Surgical procedures such as vasectomy can lead to obstructive azoospermia.
Infections: Infections in the genital area can cause damage to the sperm ducts or testicles.
Trauma and Injuries: Trauma to the testicles or inguinal region can affect sperm production or transport.
Exposure to Drugs and Toxins: Exposure to chemical or pharmaceutical substances, use of anabolic steroids, radiation, or excessive heat can affect sperm production.

Investigation of Azoospermia

The investigation of azoospermia includes a series of tests to identify the cause and determine the appropriate treatment.

Medical History and Clinical Examination: Taking a detailed medical history and clinical examination help identify potential causes, such as previous infections, trauma, or surgical procedures.
Semen Analysis: Semen analysis is the first test performed to confirm azoospermia. If no sperm are found in the sample, the test is repeated for confirmation (often after centrifugation).
Hormonal Tests: Hormonal tests evaluate the levels of FSH, LH, testosterone, and prolactin. Elevated levels of FSH and LH and low testosterone levels may indicate primary testicular failure (primary hypogonadism).
Genetic Testing: Genetic testing includes karyotype for detecting chromosomal abnormalities, such as Klinefelter syndrome, and tests for Y chromosome microdeletions. Testing for Y chromosome microdeletions can provide information regarding the probability of finding sperm in testicular biopsy. Additionally, genetic analysis for the CFTR gene can detect mutations related to cystic fibrosis.
Scrotal Ultrasound: Ultrasound helps detect anatomical abnormalities such as varicocele, hydrocele, or testicular tumours.
Testicular Biopsy: Testicular biopsy is necessary to distinguish between obstructive and non-obstructive azoospermia. The procedure involves taking a tissue sample from the testis for microscopic examination of spermatogenesis. If sperm are found, they can be used for egg fertilisation with intracytoplasmic sperm injection (ICSI) as part of an in vitro fertilisation cycle.

Clinical Management and Treatment of Azoospermia

The management and treatment of azoospermia depend on its cause and may include medication, surgical intervention, or assisted reproduction.

1. Medication:

Hormonal Therapy: In cases of hormonal disorders, administration of medications that regulate FSH, LH, and testosterone levels may improve sperm production and possibly improve the probability of finding sperm in testicular biopsy or even in the ejaculate. However, these therapies are time-consuming (usually requiring months of treatment) and often have uncertain results.
Antibiotics: Given in cases of infections affecting spermatogenesis or causing obstruction in the sperm ducts.

2. Surgical Treatment:

Surgical correction of obstructive azoospermia: In cases of obstructive azoospermia, surgical procedures can restore the natural flow of sperm. These usually include anastomosis of the sperm ducts such as after vasectomy.
PESA (Percutaneous Epididymal Sperm Aspiration) and TESA (Testicular Sperm Aspiration): These procedures use a fine needle to retrieve sperm from the epididymis (PESA), or sperm together with small fragments of tissue from the testicle (TESA). Both may be used in obstructive azoospermia.
TESE (Testicular Sperm Extraction): The procedure involves taking sperm directly from the testis through minor surgery. This method is usually used in cases of non-obstructive azoospermia where there are few sperm in the testicles.
Micro-TESE (microdissection testicular sperm extraction): The procedure involves taking sperm directly from the testis using a microscope and thorough examination of all testicular tissue. This method is time-consuming and requires specially trained surgeons and equipment but ensures the maximum success rates, i.e., finding sperm in cases of non-obstructive azoospermia.

3. Assisted Reproduction:

ICSI (Intracytoplasmic Sperm Injection): A special in vitro fertilisation technique where a single sperm is injected directly into the egg. ICSI is used in cases of low numbers of normal sperm, as commonly occurs in cases of azoospermia where sperm retrieval is possible.
Use of Donor Sperm: In cases when sperm cannot be retrieved or used, the use of donor sperm may be an alternative solution. Donor sperm can be used in combination with assisted reproductive techniques such as in vitro fertilisation (IVF) or intrauterine insemination (IUI). The selection of the donor is based on strict health and genetic compatibility criteria to ensure the best possible health of the child.

4. Psychological Support

The diagnosis of azoospermia can cause a significant emotional impact on the patient and partner. Psychological support is critical for managing the emotional and psychological effects of infertility. Professional psychologists or fertility counsellors can help couples cope with the stress, sadness, and challenges accompanying infertility. This support can include individual or couples therapy, support groups, and educational seminars.

5. Long-term Treatment and Management of Hypogonadism

Men with hypogonadism, especially those with non-obstructive azoospermia, may need long-term treatment to maintain general health and avoid future complications. Testosterone treatment can support sexual function, bone density and muscle mass in selected patients, but it is not prescribed while a man is trying to conceive because it can suppress sperm production. Alternative management should be discussed with a male-fertility specialist. Regular medical examinations and monitoring are necessary to ensure treatment effectiveness and prevent side effects.

Conclusion

Azoospermia is a complex condition that requires a combination of diagnostic and therapeutic methods. Proper investigation of causes and appropriate treatment can significantly increase the chances of success in assisted reproduction and offer hope to couples trying to have a child. If you are facing an azoospermia problem, you can consult Dr Venetis to be informed by him and his team about the best available options for your journey to becoming parents.