Azoospermia: Causes, Symptoms, Diagnosis & Treatment
Infertility is defined as the failure of couples to achieve conception through unprotected intercourse for one year. Getting into the world of infertility can be quite overwhelming, as pregnancy announcements may appear to be all around, and there are questions about one’s health that only make it even more confusing as to what the next step should be. Sterility is a complex problem for many couples, and one of the leading causes of male infertility is azoospermia when there is no sperm in the ejaculate.
This guide will teach you all you need to know about azoospermia: its causes, diagnosis, and treatment.
What is Azoospermia?
Azoospermia is the condition whereby there are no sperms in the semen, and thus, the male partner is sterile. However, this does not necessarily imply that sperm is not being produced; sometimes sperm is produced but cannot get to the semen because of blockages. There are two main types of azoospermia: based on the mechanism of the disease, it can be divided into two types, namely obstructive and non-obstructive.
Non-obstructive azoospermia is where there is no sperm production in the testicle at all, while obstructive azoospermia is when, for some reason, there is a barrier to sperm from the testicle getting into the semen, for example, between the testicle and the ejaculatory duct. In this case, sperm production is not usually affected.
non-obstructive azoospermia, the sperms are not produced due to some ailment in the testes responsible for producing sperms. This may be due to genetic disorders, hormonal problems, or injury to the testes due to infections, radiation, or chemotherapy. It was found that azoospermia had an impact on infertility in as many as 10% of patients with this diagnosis.
Different Types of Azoospermia and Its Causes
Azoospermia, which refers to the absence of sperm in semen, can result from various factors and is generally divided into three categories: pre-testicular, testicular, and post-testicular. Each has distinct underlying causes.
1. Pre-testicular Azoospermia
This type, a form of non-obstructive azoospermia, is often caused by hormonal imbalances or genetic issues. A common example is Kallmann syndrome, a rare disorder that disrupts the production of gonadotropin-releasing hormone (GnRH), necessary for sperm production.
Damage to the hypothalamus or pituitary gland—due to trauma, tumours, or radiation—can also interfere with hormone regulation, leading to infertility. Additionally, some medications that affect hormone levels can contribute to pre-testicular azoospermia.
2. Testicular Azoospermia
This form occurs due to issues within the testes. Conditions such as anorchia (absence of testes) and cryptorchidism (undescended testes) can result in poor sperm production. In cases like Sertoli cell-only syndrome, the supportive cells are present, but the sperm-producing cells are absent. Spermatogenic arrest, where sperm development stops prematurely, also falls into this category.
Genetic conditions like Klinefelter syndrome, where men have an extra X chromosome (XXY), lead to testicular failure and reduced sperm production. Other factors include infections like mumps during adolescence, radiation exposure, varicocele (enlarged veins in the scrotum), or surgical damage.
3. Post-testicular Azoospermia
This type, known as obstructive azoospermia, occurs when sperm production is normal, but a blockage in the reproductive system prevents sperm from being released. One common cause is the congenital bilateral absence of the vas deferens (CBAVD), a genetic condition often associated with cystic fibrosis, where the ducts that transport sperm are missing.
Other potential causes include infections, cysts, or previous surgeries such as a vasectomy. Trauma to the reproductive organs can also result in blockages that prevent sperm from reaching the semen.
Identifying the specific category of azoospermia helps guide treatment options, which may include hormonal therapy, surgery, or infertility treatment like in vitro fertilization (IVF).
Understanding the Symptoms of Azoospermia
Most of the men with azoospermia do not know that they have the condition until they try to have children. However, some might develop symptoms associated with other diseases or disorders, genetic or otherwise. Endocrine dysfunctions can present as increased amounts of body fat, body hair, or gynecomastia, which may affect sperm quality and fertility.
Genetic disorders including Klinefelter syndrome, which is prevalent in 90% of the men with azoospermia, result in small or undescended testicles, low testosterone levels, and cognitive or psychiatric disorders. Klinefelter syndrome is also related to such general health issues as metabolic syndrome and autoimmune disorders. Anatomical abnormalities, for example, varicoceles, which are the swelling of the veins inside the scrotum, or other structural problems, may also hinder sperm movement. Some men may experience testicular fullness or lumps, or they may feel that their testicles are less firm than usual.
The primary symptom of azoospermia is the inability to conceive, which is usually diagnosed after the couple has not been able to conceive for some time. In all cases, a thorough medical evaluation, including hormone tests, genetic screening, and imaging of the reproductive organs, is crucial for confirming the diagnosis and identifying the cause from an IVF specialist near me.
Diagnosing Azoospermia
Azoospermia is the absence of sperm in the semen, and several tests are carried out to identify the cause. The most common diagnostic method is a semen analysis, spectrogram, or monogram. This test involves determining some semen characteristics, including the concentration, motility, and morphology of sperm.
Steps in Diagnosing Azoospermia:
- Semen Analysis: The first procedure is to carry out a post-coital test twice to rule out the presence of sperm. Exams are usually conducted after two to three months to allow for variability due to factors such as stress, fever, and the use of drugs that may affect sperm. If both samples contain no sperm, the condition is referred to as azoospermia.
- Physical Examination: After confirmation of the disease, a physical examination is carried out. This involves an examination of the testicles and scrotum, probably the reproductive tract, and possibly a rectal examination to assess seminal vesicles or the prostate gland.
- Blood Tests and Hormonal Evaluation: Blood tests determine reproductive hormones such as testosterone and follicle-stimulating hormone (FSH). The presence of abnormally high or low hormone levels can also give information about sperm production.
- Imaging Tests: Ultrasound or MRI scans may identify blockages in the reproductive system or abnormalities in the pituitary or hypothalamus that could affect sperm production.
- Genetic Testing: In the cases of non-obstructive azoospermia, genetic testing could be required. And like said above, conditions like Klinefelter syndrome or Y chromosome microdeletions can be associated with this type of azoospermia.
Confirming the diagnosis of azoospermia helps determine whether the condition is obstructive or non-obstructive, guiding subsequent treatment or fertility options.
Treatment for Azoospermia
The approach to treating azoospermia, characterized by the absence of sperm in the ejaculate, varies based on whether the cause is obstructive or non-obstructive.
Obstructive Azoospermia Treatment
- Surgical Correction:
If the reproductive tract is blocked, microsurgery or endoscopic surgery may be employed to correct it. Microsurgery involves removing blockages in the vas deferens or epididymis using delicate procedures, while endoscopic surgery involves removing obstructions such as those in the ejaculatory duct through least invasive procedures.
- Sperm Extraction:
If surgery is not possible or is not desired, sperm can be obtained by removing it from the testicles or epididymis. This sperm can then be used in assisted reproductive technologies (ART), such as infertility treatment (IVF) with intracytoplasmic sperm injection (ICSI). These methods are used mainly in cases of obstructive azoospermia in the male partners.
Non-obstructive Azoospermia Treatment
- Hormonal Therapy:
In cases where the hormonal levels of sperm-producing hormones are low, then treatments may involve hormone replacement therapy or the use of drugs that may help in the production of sperm. For instance, aromatase inhibitors can be used to regulate the ratio of testosterone and estradiol, which can help with sperm production.
- Surgical Interventions for Varicoceles:
Surgical removal may be beneficial when varicoceles, enlarged veins in the scrotum, are affecting sperm production. This intervention is normally done when the condition is severe.
- Assisted Reproductive Technologies (ART):
If restoring sperm production is not possible, sperm can be directly retrieved from the testes using techniques such as testicular sperm extraction (TESE). These sperm can then be used in ICSI during IVF procedures.
If genetic issues cause azoospermia, then it may be advisable to seek genetic counselling and plan the couple’s future family accordingly. The outcome and success of treatment depend on the type of azoospermia that a man is diagnosed with.
Conclusion
Azoospermia is one of the leading causes of male infertility defined as the absence of sperm in the semen. To understand the condition, one has to know if it is obstructive or nonobstructive because the treatment of the two is different. In cases of obstructive azoospermia, which is the most common type, correction of the blockage through surgery or sperm retrieval is possible, while non-obstructive azoospermia that originates from testicular causes may require hormone treatment, surgery or assisted reproductive technologies like IVF.
Azoospermia can be diagnosed with the help of semen analysis, physical examination, blood tests, and genetic testing to identify the exact cause of the condition and determine further treatment. While the condition is painful, many medical treatments offer several ways of handling fertility. It is encouraging that early diagnosis and various treatment options can help patients with azoospermia to have a successful conception and childbirth.