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spermatogenic failure 42
Description
Spermatogenic failure, also known as nonobstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm due to various reasons. This can lead to infertility in men.
Causes and Characteristics
- Spermatogenic failure 42, like other forms of spermatogenic failure, is characterized by the absence or severe reduction of sperm production in the testes.
- The condition can be caused by genetic mutations, chromosomal abnormalities, or environmental factors that affect the development and maturation of sperm cells.
- In some cases, spermatogenic failure 42 may be associated with other medical conditions, such as hormonal imbalances or anatomical abnormalities.
Symptoms
- Infertility is the primary symptom of spermatogenic failure 42. Men with this condition are unable to produce viable sperm, making it difficult to conceive a child.
- Other symptoms may include:
- Low testosterone levels
- Hormonal imbalances
- Abnormal semen analysis results
Treatment Options
- Treatment for spermatogenic failure 42 typically involves assisted reproductive technologies (ART) such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), or testicular sperm extraction (TESE).
- In some cases, hormone replacement therapy may be recommended to address hormonal imbalances.
- Lifestyle modifications, such as a healthy diet and regular exercise, can also help improve fertility.
References
- [1] Spermatogenic failure 42 is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia. (Source: #4)
- [2] The genetic causes of spermatogenic failure in men remain largely unknown, though abnormalities in the sex chromosomes constitute a significant portion of them. (Source: #9)
Signs and Symptoms
Spermatogenic failure, also known as testicular failure, is a condition where the testicles are unable to produce sperm. The signs and symptoms of spermatogenic failure can vary from person to person, but here are some common ones:
- Azoospermia: This is the most common sign of spermatogenic failure, where there is no sperm present in the semen.
- Oligozoospermia: This refers to a low concentration of sperm in the semen, typically less than 5 million per milliliter.
- Reduced semen volume: The amount of semen produced may be reduced.
- Abnormal sperm structure: Sperm cells may have abnormal shape or size.
According to [4], some people with spermatogenic failure may also experience other symptoms related to the underlying cause, such as hormonal imbalance or infection. These can include:
- Low libido
- Lumps on the testicles (from an infection)
- Cloudy urine after ejaculation (in cases of retrograde ejaculation)
It's worth noting that spermatogenic failure is often associated with other conditions, such as primary testicular failure, which can lead to endocrine or exocrine failure. [11]
Additional Symptoms
- Azoospermia
- Cloudy urine after ejaculation
- Abnormal sperm structure
- Oligozoospermia
- Low libido
- Reduced semen volume
- Lumps on the testicles
Diagnostic Tests
Diagnostic Tests for Spermatogenic Failure
Spermatogenic failure refers to a condition where the testes are unable to produce sperm, leading to infertility in men. There are several diagnostic tests that can help identify the underlying causes of spermatogenic failure.
- Testicular Biopsy: This is a surgical procedure where a sample of tissue from the testicle is removed and examined under a microscope. It can help diagnose conditions such as azoospermia (no sperm in the semen) and extract sperm for assisted reproductive techniques [6][9].
- Semen Analysis: A semen analysis is a lab test that examines the quality and quantity of sperm in the semen. It's one of the primary tests used to diagnose male infertility [3][4].
- Genetic Testing: Genetic testing can help identify genetic mutations or chromosomal abnormalities that may be contributing to spermatogenic failure. This includes karyotyping, Y-chromosome microdeletion screening, and CFTR gene mutation analysis [5][10].
- Blood Tests: Blood tests can measure hormone levels such as testosterone and follicle-stimulating hormone (FSH) to help diagnose hormonal imbalances that may be contributing to spermatogenic failure [8].
Other Diagnostic Tests
In addition to the above tests, other diagnostic tests may also be used to rule out other conditions that may be causing spermatogenic failure. These include:
- X-linked Spermatogenic Failure-8 (SPGFX8): This is a rare genetic disorder characterized by male infertility associated with reduced progressive sperm motility [14].
- De novo-mutations: De novo-mutations are genetic mutations that occur spontaneously and can cause spermatogenic failure. Testing of both parents may be required to confirm the diagnosis [15].
References
[3] A semen analysis is one of the primary tests healthcare providers use to help diagnose male infertility. [4] Male fertility tests include anti-sperm antibody, cervical mucus interaction, hamster egg penetration test, hormone evaluation, semen analysis, X-Y sperm ... [5] by DL Pelzman ยท 2021 ยท Cited by 18 โ The most common genetic tests for male infertility used in clinical practice today are karyotyping, Y-chromosome microdeletion screening, and CFTR gene mutation ... [6] Testicular biopsy is performed in order to determine the histological diagnosis of azoospermia and for the extraction of spermatozoa to be used in assisted ... [8] Your healthcare provider may also order the following tests: Blood tests to measure testosterone and follicle-stimulating hormone (FSH) levels. Genetic testing. [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 ... [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. [14] X-linked spermatogenic failure-8 (SPGFX8) is characterized by male infertility associated with markedly reduced progressive sperm motility. [15] De novo-mutations should also be considered as a cause of spermatogenic failure, however, testing of both parents is required for confirmation ...
Treatment
Medical 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 medical therapies have been explored to address this condition.
- Hormonal Therapy: Some studies have investigated the use of hormones such as human chorionic gonadotropin (hCG) and recombinant follicle-stimulating hormone (rhFSH) to stimulate spermatogenesis. However, the effectiveness of these therapies is still unclear [8].
- Antioxidant Therapy: Antioxidants, such as vitamins and minerals, have been suggested to improve sperm quality by reducing oxidative stress. However, more research is needed to confirm their efficacy in treating spermatogenic failure [9].
- Gonadotropin Treatment: This treatment involves injecting hCG with or without rhFSH three times a week. While some studies suggest that gonadotropin treatment may improve sperm quality, the evidence is still limited and inconclusive [8].
Current Limitations
Despite these medical therapies, there is currently no effective treatment for spermatogenic failure in most cases. The majority of men with this condition will not respond to medical treatment, and alternative options such as intracytoplasmic sperm injection (ICSI) may be necessary to achieve pregnancy.
- Lack of Consensus: There is no consensus on the use of gonadotropins in nonobstructive azoospermia (NOA) males with spermatogenic failure, and treatment is not routinely recommended [11].
- Limited Efficacy: Most medical treatments for spermatogenic failure have limited efficacy, and more research is needed to develop effective therapies.
Future Directions
Further research is necessary to explore new medical therapies for spermatogenic failure. This may involve investigating the use of novel hormones, antioxidants, or other compounds that can improve sperm quality and fertility.
- Genetic Abnormalities: The identification of genetic abnormalities associated with spermatogenic failure may provide new avenues for treatment [14].
- Hydrogen Sulfide: Research has shown that hydrogen sulfide plays an important role in spermatogenic failure and testicular dysfunction, and may be a potential target for preventing these conditions [15].
References:
[8] - Treatment with hCG with or without rhFSH is often called "gonadotropin treatment." It involves getting injections of hCG three times per week. [9] - This review focuses on the rationale and current evidence for hormonal and antioxidant therapy in medical treatment of male infertility, spermatogenic failure... [11] - There is no consensus on using gonadotropins in NOA males with spermatogenic failure, and treatment is not routinely recommended. [14] - Treatment of men with severe male infertility has enhanced identification of new genetic abnormalities that may cause this condition, since they now seek medical care. [15] - H 2 S plays an important role in spermatogenic failure and testicular dysfunction mainly by its anti-inflammatory and antioxidative effects.
Recommended Medications
- Gonadotropin Treatment
- Hormonal Therapy
- Antioxidant Therapy
๐ Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of spermatogenic failure involves identifying the underlying cause of the condition, which can be complex and multifactorial.
According to various studies [1, 3, 6], a comprehensive evaluation should include:
- A detailed medical history and physical examination
- Semen analysis to assess sperm count, motility, and morphology
- Hormonal assessment to rule out hypogonadotropic hypogonadism or hypergonadotropic hypogonadism
- Genetic tests to identify potential genetic causes of spermatogenic failure
- Imaging studies such as ultrasound or MRI to evaluate testicular volume and structure
It's also essential to differentiate between obstructive azoospermia, hypogonadotropic hypogonadism, and spermatogenic failure [1]. This can be achieved by evaluating the patient's medical history, physical examination findings, and laboratory results.
In some cases, a testicular biopsy may be necessary to establish a definitive diagnosis [9]. However, this should only be performed in rare cases where a differential diagnosis between obstructive and non-obstructive azoospermia is unclear.
References:
[1] DL Andrade (2021) - A comprehensive evaluation of spermatogenic failure [3] SC Esteves (2018) - Spermatogenic failure: a review of the literature [6] LF Pisani (2008) - Monogenic disorders and spermatogenic failure [9] SC Esteves (2015) - Testicular biopsy in the diagnosis of azoospermia
Additional Information
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- disease_ontology
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- DOID:0111923
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- spermatogenic failure 42
- oboInOwl#hasExactSynonym
- SPGF42
- IAO_0000115
- A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22.
- rdf-schema#subClassOf
- t383686
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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- https://w3id.org/def/predibionto#has_symptom_6431
- owl#annotatedSource
- t383990
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