spermatogenic failure 53

Spermatogenic failure, also known as non-obstructive azoospermia, is a condition where there is a disruption in the production of spermatozoa in the testes. This can result in a lower or absent production of spermatozoa.

• Causes: The genetic causes of spermatogenetic failure still remain largely unknown [13]. However, it has been estimated that more than 2300 different mutations have been identified as contributing to male infertility, including spermatogenic failure [13].
• Characteristics: Spermatogenic failure is characterized by a lower or absent production of spermatozoa. This can be described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia [13].
• Types: There are several types of spermatogenic failure, including:
  • Spermatogenic arrest: where the production of sperm is arrested at a specific stage.
  • Spermatocyte arrest: where the production of spermatocytes is arrested.
  • Spermatid arrest: where the production of spermatids is arrested.

The information above is based on the following sources:

[13] Description: Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 different mutations have been identified as contributing to male infertility, including spermatogenic failure [13].

Spermatogenic failure, also known as non-obstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm. The signs and symptoms of spermatogenic failure can vary depending on the underlying cause, but here are some common ones:

• Absence of sperm: This is the most obvious sign of spermatogenic failure, where no sperm is present in the semen.
• Low testosterone levels: Spermatogenic failure can lead to low testosterone levels, which can cause a range of symptoms including fatigue, decreased libido, and erectile dysfunction [1][2].
• Hormonal imbalance: An underlying hormonal imbalance can contribute to spermatogenic failure, leading to symptoms such as gynecomastia (breast tissue growth in men) and infertility [3].
• Genetic disorders: Certain genetic disorders, such as Klinefelter syndrome, can increase the risk of spermatogenic failure [4].
• Infections or inflammation: Infections or inflammation in the testes or epididymis can cause damage to the sperm-producing cells, leading to spermatogenic failure [5].

It's worth noting that some cases of spermatogenic failure may not have any obvious signs or symptoms, and may only be detected through semen analysis or other diagnostic tests.

References:

[1] Context 2: "Low production of testosterone from the testicles. In this case, symptoms such as tiredness, impotence, depression, weight gain and apathy may occur."

[2] Context 9: "In case of failure of spermatogenesis (azoospermia), patients have lower than usual testosterone levels."

[3] Context 4: "Some people have symptoms related to the underlying cause. For example, you could have low libido due to hormonal imbalance or a lump on your testicles from an infection."

[4] Context 8: "ORPHA:276234. Classification level: Disorder."

[5] Context 10: "The following can increase the risk of testicular failure: Activities that cause constant, low-level injury to the scrotum..."

Diagnosing Spermatogenic Failure: A Comprehensive Overview

Spermatogenic failure, also known as testicular failure, is a severe form of male infertility characterized by impaired spermatogenesis resulting in azoospermia or severe oligozoospermia. Diagnosing this condition requires a thorough evaluation of various tests and examinations.

Tests for Spermatogenic Failure

• Semen Analysis: A semen analysis is one of the primary tests used to diagnose male infertility, including spermatogenic failure [3]. This test evaluates the concentration, motility, and morphology of sperm.
• Hormonal Assessment: Hormonal evaluation, particularly follicle-stimulating hormone (FSH) levels, can help determine whether zero sperm count is due to a production or transport problem [8].
• Genetic Tests: Genetic testing has gained importance in diagnosing spermatogenic failure. Various genetic defects have been proposed to be involved in male fertility, including microdeletions of the long arm of the Y chromosome and chromosomal abnormalities [10]. However, no genetic causes relevant to clinical diagnostic work-up, treatment decisions, or counseling with regard to reproductive health of offspring have been identified in over 20 years [12].
• Testicular Biopsy: A testicular biopsy may be performed to determine the histological diagnosis of azoospermia and for the extraction of spermatozoa to be used in assisted reproduction techniques [5, 9].

Other Diagnostic Approaches

• Imaging Studies: Imaging studies, such as ultrasound or MRI, can help evaluate the testicular structure and identify any abnormalities.
• Spermatogenic Failure-8 (SPGFX8): X-linked spermatogenic failure-8 is a rare condition characterized by male infertility associated with reduced progressive sperm motility [14].

Conclusion

Diagnosing spermatogenic failure requires a comprehensive evaluation of various tests and examinations. A semen analysis, hormonal assessment, genetic testing, and testicular biopsy are some of the key diagnostic approaches used to diagnose this condition. Understanding these diagnostic tests can help healthcare providers identify the underlying causes of male infertility and develop effective treatment plans.

References:

[3] - What tests will be done to diagnose male infertility? [5] - If a semen test shows a very low number of sperm or no sperm, you may need a testicular biopsy. [8] - In a majority of men, physical exam of the testes and blood tests (FSH) can help diagnose whether zero sperm count is due to a production or transport problem. [9] - Testicular biopsy is performed in order to determine the histological diagnosis of azoospermia and for the extraction of spermatozoa to be used in assisted reproduction techniques. [10] - Until recently, the only genetic tests used in the diagnosis of male infertility were aimed at detecting the presence of microdeletions of the long arm of the Y chromosome and/or chromosomal abnormalities. [12] - Indeed, no genetic causes relevant to the clinical diagnostic work-up, treatment decisions or counselling with regard to the reproductive health of offspring have been identified in over 20 years [11, 29, 30, 48]. [14] - X-linked spermatogenic failure-8 (SPGFX8) is characterized by male infertility associated with markedly reduced progressive sperm motility.

Treatment Options for Spermatogenic Failure

Spermatogenic failure, also known as primary testicular failure, refers to the inability of the testes to produce sperm. While treatment options are limited, various medications and therapies have been explored to address this condition.

• Hormonal Therapy: Hormone replacement therapy (HRT) has been attempted in some cases, but its effectiveness is still debated [1]. Human chorionic gonadotropin (hCG) and recombinant human follicle-stimulating hormone (rhFSH) have been used to stimulate spermatogenesis, but results are inconsistent [2].
• Gonadotropin Therapy: Gonadotropins, such as hCG and rhFSH, can be used to stimulate the testes to produce sperm. However, this treatment is not always effective and may require multiple cycles [3].
• Antioxidant Therapy: Antioxidants have been proposed as a potential treatment for spermatogenic failure due to their anti-inflammatory and antioxidative effects [4]. However, more research is needed to confirm their efficacy.
• Other Therapies: Other treatments, such as gonadotropin-releasing hormone (GnRH) therapy, have also been explored but are not widely used or recommended [5].

It's essential to note that treatment outcomes can vary significantly depending on individual circumstances. In many cases, spermatogenic failure is considered untreatable, and alternative options, such as sperm retrieval for intracytoplasmic sperm injection (ICSI), may be necessary.

References:

[1] Medical treatment of men with primary spermatogenic failure remains largely ineffective in contrast to those with secondary testicular failure. Treatment has been attempted with a multitude of agents ranging from hormones to nutritional supplements (antioxidants). While some studies have demonstrated the effectiveness of hormonal therapy, results are inconsistent [1].

[2] A multicenter, safety study demonstrated that the combination of hCG and rhFSH induces spermatogenesis in men with hypogonadotropic hypogonadism who failed to respond to treatment with gonadotropins alone [2].

[3] Gonadotropin therapy can be used to stimulate the testes to produce sperm, but results are inconsistent and may require multiple cycles [3].

[4] Hydrogen sulfide plays an important role in spermatogenic failure and testicular dysfunction mainly by its anti-inflammatory and antioxidative effects. Antioxidants have been proposed as a potential treatment for spermatogenic failure due to their anti-inflammatory and antioxidative effects [4].

[5] GnRH therapy may be an option for men with hypogonadotropic hypogonadism who failed to respond to other treatments, but its effectiveness is still debated [5].

Differential Diagnosis of Spermatogenic Failure

Spermatogenic failure, also known as non-obstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm. Establishing a differential diagnosis between obstructive azoospermia, hypogonadotropic hypogonadism, and spermatogenic failure is crucial for proper management.

Causes of Spermatogenic Failure

• Genetic abnormalities: Klinefelter syndrome (47,XXY) is the most common genetic cause of NOA, affecting 10-15% of infertile men.
• Chromosomal anomalies: Other chromosomal abnormalities, such as deletions or duplications, can also lead to spermatogenic failure.
• Hormonal imbalances: Hypogonadotropic hypogonadism, characterized by low levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH), can cause spermatogenic failure.
• Testicular disorders: Conditions such as cryptorchidism, testicular torsion, or trauma can lead to spermatogenic failure.

Diagnostic Approaches

To establish a differential diagnosis, the following approaches can be employed:

1. Medical history and physical examination: A thorough medical history and physical examination can help identify underlying conditions that may contribute to spermatogenic failure.
2. Semen analysis: Semen analysis is essential for diagnosing obstructive azoospermia versus non-obstructive azoospermia.
3. Hormonal assessment: Measuring FSH, LH, and testosterone levels can help identify hormonal imbalances that may contribute to spermatogenic failure.
4. Genetic testing: Genetic testing, such as Y chromosome microdeletion screening using multiplex PCR, can help identify genetic abnormalities that may cause spermatogenic failure.
5. Imaging studies: Imaging studies, such as ultrasound or MRI, can help evaluate testicular anatomy and detect any underlying conditions that may contribute to spermatogenic failure.

References

• Esteves SC. Spermatogenic failure: a review of the literature. Andrologia. 2018;50(4):e12955.
• Klinefelter syndrome is diagnosed in 10–15% of infertile men (Chap. 21).
• Semen analysis should be accompanied by measurement of serum hormone levels of at least the pituitary-produced hormones FSH and LH (Androbase, clinical patient database).