spermatogenic failure 11

Spermatogenic failure refers to a condition where there is an impairment in the production of spermatozoa, leading to a lower or absent production of sperm. This can be described by routine semen analysis using terms such as azoospermia (no sperm), oligozoospermia (low sperm count), teratozoospermia (abnormal sperm morphology), or asthenozoospermia (reduced sperm motility).

The genetic causes of spermatogenic failure still remain largely unknown, although it has been estimated that more than 2300 genes are involved in the regulation of spermatogenesis. Spermatogenic failure can be caused by various factors, including numerical and structural chromosomal abnormalities, which can interfere with normal meiosis and lead to impaired sperm production.

Some specific subtypes of spermatogenic failure include:

• Spermatogenic failure-64 (SPGF64), characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia.
• Spermatogenic failure-30 (SPGF30), characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia.
• Spermatogenic failure-65 (SPGF65), characterized by male infertility due to asthenoteratozoospermia.

Overall, spermatogenic failure is a complex condition that can result from various genetic and environmental factors, leading to impaired sperm production and male infertility. [1][2][3][4][5]

Signs and Symptoms of Spermatogenic Failure

Spermatogenic failure, also known as male infertility, can manifest in various ways. Some common signs and symptoms include:

• Primary testicular failure: This can lead to endocrine failure, resulting in testosterone deficiency or exocrine failure causing impaired spermatogenesis.
• Hormonal imbalance: An imbalance of hormones such as LH (luteinizing hormone) and FSH (follicle-stimulating hormone) can affect sperm production.
• Dilated veins around the testicle: This can cause a blockage in the passage of sperm, leading to male infertility.
• Inherited disorders: Certain inherited conditions, such as Klinefelter syndrome, can cause spermatogenic failure.

These symptoms may not always be present, and some cases may have underlying causes that are not immediately apparent. However, if you're experiencing any of these signs or symptoms, it's essential to consult a healthcare professional for proper diagnosis and treatment.

References:

• [11] Identifies the signs and symptoms of male hypogonadism.
• [14] Provides information on spermatogenic failure, including associated genes, mutations, phenotypes, pathways, drugs, and more.

Diagnostic Tests for Spermatogenic Failure

Spermatogenic failure refers to a condition where the testes are unable to produce sperm, leading to male infertility. Several diagnostic tests can help identify this condition.

• Testicular Biopsy: This test involves removing samples from the testicle with a needle to examine the tissue and determine if there is any spermatogenesis occurring [1]. If the results show that sperm production is not happening, it may indicate spermatogenic failure.
• Semen Analysis: A semen analysis is one of the primary tests used to diagnose male infertility. It can help identify issues with sperm count, motility, and morphology [4].
• Karyotype Analysis (KA): KA is a genetic test that examines the chromosomes in the body's cells. It can help identify chromosomal abnormalities that may be contributing to spermatogenic failure [3][8].
• Y-Chromosome Microdeletion Screening: This test looks for small deletions on the Y chromosome, which can be associated with spermatogenic failure [3][8].
• CFTR Gene Mutation Testing: The CFTR gene is responsible for producing a protein that helps regulate sperm production. Mutations in this gene have been linked to spermatogenic failure [8].

Other Tests

In addition to these tests, other diagnostic tools may be used to help diagnose spermatogenic failure. These include:

• Blood Tests (FSH): Blood tests can help determine if there are any hormonal imbalances that may be contributing to spermatogenic failure [9].
• Post-Ejaculate Urine Analysis: This test can help identify issues with sperm production and transport [7].

References

[1] Testicular biopsy.​​ This test involves removing samples from the testicle with a needle. If the results of the testicular biopsy show that sperm production is not happening, it may indicate spermatogenic failure. [3] by DL Pelzman · 2021 · Cited by 18 — Currently, three genetic tests are commonly performed and recommended by major urologic associations: karyotype analysis (KA), Y-chromosome microdeletion screening, and CFTR gene mutation testing. [4] What tests will be done to diagnose male infertility? ... A semen analysis is one of the primary tests healthcare providers use to help diagnose male infertility. [7] and can be diagnosed with a post-ejaculate urine analysis designed for sperm assessment in the presence of a dry ejaculate. [8] by DL Pelzman · 2021 · Cited by 18 — The most common genetic tests for male infertility used in clinical practice today are karyotyping, Y-chromosome microdeletion screening, and CFTR gene mutation testing. [9] 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 a transport problem.

Treatment Options for Spermatogenic Failure

Spermatogenic failure, also known as nonobstructive azoospermia, is a condition where the testes are unable to produce sperm. While there is no cure for this condition, various treatment options can help stimulate spermatogenesis and improve fertility.

• Hormone Therapy: Hormones such as gonadotropins (GnRH) and human chorionic gonadotropin (hCG) have been used to treat spermatogenic failure. These hormones stimulate the testes to produce sperm, and in some cases, can lead to a significant improvement in fertility [1][2].
• Medications: Certain medications such as pentoxifylline (PTX) have been shown to improve sperm quality and increase the chances of conception [3]. However, more research is needed to confirm their effectiveness.
• Surgery: In some cases, surgery may be necessary to treat underlying conditions that are contributing to spermatogenic failure. For example, varicocele repair can help improve testicular function and fertility [4].
• Gonadotropin Therapy: Gonadotropin therapy involves injecting gonadotropins into the body to stimulate sperm production. This treatment has been shown to be effective in increasing spermatogenesis and improving fertility in men with low sperm concentrations due to gonadotropin deficiency [5].

Important Considerations

It's essential to note that each individual's situation is unique, and what works for one person may not work for another. Additionally, while these treatment options can improve fertility, they do not guarantee a successful pregnancy.

References:

[1] R Ramasamy (2012) - Treatment has been attempted with a multitude of agents ranging from hormones to nutritional supplements (antioxidants).

[2] AA Dabaja (2014) - Even though GnRH and gonadotropins have proven their benefit and shown success in the induction of spermatogenesis in HH, there is limited evidence for the use ...

[3] J Ding (2016) - We herein provide an overview of the single-ingredient US Food and Drug Administration (FDA)-approved drugs that affect human spermatogenesis.

[4] BD Anawalt (2013) - For most men with low sperm concentrations due to gonadotropin deficiency, gonadotropin therapy effectively increases spermatogenesis.

[5] Y Lu (2022) - Pentoxifylline (PTX) is one of the methylxanthines and is now most frequently used in the treatment of sperm in vitro in ART (Mahaldashtian et ...

The differential diagnosis of spermatogenic failure involves identifying the underlying causes of reduced sperm production or quality. According to [6], spermatogenic failure can result from various factors, including:

• Hypogonadotrophic hypogonadism: a condition characterized by low levels of gonadotropin-releasing hormone (GnRH) and luteinizing hormone (LH), leading to reduced sperm production.
• Cryptorchidism: a condition where one or both testes fail to descend into the scrotum, affecting sperm production.
• Delayed puberty: a condition where puberty is delayed, which can affect sperm production.
• Male pseudohermaphroditism: a rare genetic disorder that affects sex development and can lead to reduced sperm production.

Additionally, [8] suggests that spermatogenic failure can be caused by various factors, including:

• Azoospermia: the absence of sperm in the ejaculate
• Oligozoospermia: a low sperm count
• Asthenozoospermia: poor sperm motility

To establish a differential diagnosis, it is essential to consider these potential causes and perform a thorough medical evaluation, including a full history, physical examination, and laboratory tests [10].

References: [6] LF Pisani · 2008 · Cited by 90 [8] by SC Esteves · 2015 · Cited by 16