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spermatogenic failure 26
Description
Spermatogenic failure refers to a condition where there is an impairment in the production of spermatozoa, leading to male infertility. Spermatogenic failure can manifest in various ways, including:
- Azoospermia: The absence of sperm in the ejaculate.
- Oligozoospermia: A low concentration of sperm in the ejaculate.
- Teratozoospermia: Abnormal morphology of spermatozoa.
- Asthenozoospermia: Reduced motility of spermatozoa.
Spermatogenic failure can be caused by various factors, including genetic abnormalities, hormonal imbalances, and environmental factors. The condition is often characterized by a disruption in the normal process of spermatogenesis, which involves the development of diploid cells into mature haploid spermatozoa.
According to [3], Spermatogenic failure-26 (SPGF26) is an autosomal recessive disorder characterized by male infertility due to nonobstructive azoospermia. However, I couldn't find any specific information on SPGF26 in the provided context.
In general, spermatogenic failure can be caused by various genetic and environmental factors, including:
- Chromosomal abnormalities: Numerical and structural chromosomal abnormalities can interfere with normal meiosis and cause spermatogenic failure [6].
- Hormonal imbalances: Hormonal imbalances, such as low testosterone levels, can disrupt the normal process of spermatogenesis.
- Environmental factors: Exposure to environmental toxins, radiation, and other stressors can also contribute to spermatogenic failure.
It's worth noting that the genetic causes of spermatogenetic failure still remain largely unknown [13].
Additional Characteristics
- Azoospermia
- Environmental factors
- Chromosomal abnormalities
- Oligozoospermia
- Hormonal imbalances
- Teratozoospermia
- Asthenozoospermia
Signs and Symptoms
Spermatogenic failure, also known as azoospermia or non-obstructive azoospermia, occurs when there is a complete absence of sperm in the ejaculate due to problems with sperm production. The signs and symptoms of spermatogenic failure can vary from person to person but may include:
- Decreased facial or body hair: This can be an indication of hormonal imbalances that may contribute to spermatogenic failure [1].
- Low testosterone levels: Spermatogenesis is a testosterone-dependent process, so low testosterone levels can lead to reduced sperm production [9].
- High FSH (Follicle-Stimulating Hormone) levels: Elevated FSH levels can indicate that the body is trying to stimulate the testes to produce more sperm, but with no response [9].
- Azoospermia: This is the most obvious sign of spermatogenic failure, where there are no sperm present in the ejaculate [5].
Other potential signs and symptoms may include:
- Reduced semen volume: Spermatogenic failure can lead to reduced semen volume due to decreased sperm production [7].
- Oligospermia: This refers to a low sperm count, which can be a sign of spermatogenic failure [6].
- Abnormally structured spermatozoa: In some cases, spermatogenic failure may result in the production of abnormally shaped or functioning sperm [7].
It's essential to note that these signs and symptoms may not always be present, and the severity of spermatogenic failure can vary widely among individuals. If you're experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper evaluation and diagnosis.
References: [1] Decreased facial or body hair or other signs of a chromosomal or hormonal abnormality; A lower than normal sperm count (fewer than 15 million ... [1] [5] Azoospermia means there's no sperm in a person's ejaculate (semen). Blockages, structural issues and hormonal problems cause it. It may cause infertility. [5] [6] Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 ... [6] [7] Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present. ORPHA:276234. Classification level: Disorder. [7] [9] Aug 31, 2022 — In case of failure of spermatogenesis (azoospermia), patients have lower than usual testosterone levels. High FSH and low testosterone ... [9]
Additional Symptoms
- Azoospermia
- Oligospermia
- Decreased facial or body hair
- Low testosterone levels
- Reduced semen volume
- Abnormally structured spermatozoa
- High FSH (Follicle-Stimulating Hormone) levels
Diagnostic Tests
Diagnostic Tests for Spermatogenic Failure
Spermatogenic failure, also known as primary testicular failure, can be diagnosed through various tests that assess the function and structure of the testes. Here are some diagnostic tests used to diagnose spermatogenic failure:
- Semen Analysis: A semen analysis is one of the primary tests used to help diagnose male infertility. It measures the number of sperm present in the semen and looks for any abnormalities in sperm morphology, motility, and concentration [13].
- Hormonal Assessment: Hormonal assessment involves measuring the levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), free testosterone, and other hormones in the blood. Elevated FSH levels are often indicative of spermatogenic failure rather than obstructive azoospermia [10].
- Genetic Testing: Genetic testing can help identify genetic causes of spermatogenic failure, such as microdeletions on the Y chromosome or single-gene defects. However, in over 20 years since AZF deletions were described, no genetic causes relevant to clinical diagnostic work-up, treatment decisions, or counseling have been identified [4].
- Imaging Studies: Imaging studies, such as ultrasound and MRI, can help assess the structure of the testes and identify any abnormalities that may be contributing to spermatogenic failure.
- Sperm Retrieval: Sperm retrieval is a procedure where sperm are retrieved from the testes or epididymis. This can be used in conjunction with other diagnostic tests to confirm the diagnosis of spermatogenic failure.
These diagnostic tests can help identify the underlying cause of spermatogenic failure and guide treatment decisions. However, it's essential to note that genetic testing has both diagnostic and prognostic value for testicular sperm retrieval in azoospermic men [5].
References:
[1] Context 10 [2] Context 7 [3] Context 13 [4] Context 4 [5] Context 5
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 shown that hormonal therapy, such as human chorionic gonadotropin (hCG) and recombinant follicle-stimulating hormone (rhFSH), can stimulate sperm production in some men with spermatogenic failure [8]. However, the effectiveness of this treatment is still debated.
- Antioxidant Therapy: Antioxidants, such as vitamins C and E, have been suggested to improve sperm quality by reducing oxidative stress. However, more research is needed to confirm their efficacy [9].
- Other Therapies: Other medical therapies, including testosterone replacement therapy and gonadotropin treatment, have also been explored. However, the evidence for these treatments is limited, and more research is needed to determine their effectiveness.
Current Challenges
Despite various medical therapies being explored, the treatment of spermatogenic failure remains largely ineffective. The lack of a clear understanding of the underlying causes of this condition makes it challenging to develop effective treatments.
- Limited Understanding: The exact mechanisms behind spermatogenic failure are not yet fully understood, making it difficult to develop targeted therapies.
- Variable Response: Men with spermatogenic failure may respond differently to various medical therapies, highlighting the need for personalized treatment approaches.
Future Directions
Further research is needed to better understand the causes of spermatogenic failure and to develop more effective treatment options. This includes exploring new hormonal and antioxidant therapies, as well as investigating other potential treatments such as stem cell therapy.
- Stem Cell Therapy: Stem cells have been suggested as a potential treatment option for spermatogenic failure. However, more research is needed to confirm their efficacy.
- Personalized Medicine: Personalized medicine approaches may also be beneficial in treating men with spermatogenic failure, taking into account individual differences in response to various medical therapies.
References:
[8] - Treatment with hCG with or without rhFSH is often called "gonadotropin treatment." It involves getting injections of hCG three times per week [8]. [9] - This review focuses on the rationale and current evidence for hormonal and antioxidant therapy in medical treatment of male infertility, spermatogenic failure [9].
Recommended Medications
- Other Therapies
- Hormonal Therapy
- Antioxidant Therapy
- Stem Cell Therapy
💊 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
Understanding Differential Diagnosis in Spermatogenic Failure
Spermatogenic failure, also known as non-obstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm. A differential diagnosis is essential to determine the underlying cause of this condition, which can vary from individual to individual.
Causes of Spermatogenic Failure
- Genetic abnormalities: Y chromosome microdeletions, Klinefelter syndrome, and other genetic conditions can lead to spermatogenic failure [1].
- Hormonal imbalances: Hypogonadotropic hypogonadism, a condition where the pituitary gland does not produce enough hormones to stimulate sperm production, can also cause NOA [7].
- Infections: Childhood infections such as mumps and certain bacterial or viral infections can damage the testes and lead to spermatogenic failure [8].
- Chromosome problems: Abnormalities in chromosome 9, 13, and 18 have been linked to spermatogenic failure [7].
Differential Diagnosis
A differential diagnosis between obstructive azoospermia (OA) and NOA is crucial, as the management of these conditions varies significantly. Obstructive azoospermia occurs when there is a physical blockage in the reproductive tract, whereas non-obstructive azoospermia is due to a failure of spermatogenesis.
Diagnostic Tests
To determine the underlying cause of NOA, various diagnostic tests can be performed, including:
- Semen analysis: To assess sperm count and motility.
- Hormonal assessment: To evaluate hormone levels in the blood or semen.
- Genetic testing: To identify genetic abnormalities.
- Imaging studies: To rule out physical obstructions.
Conclusion
In conclusion, differential diagnosis is essential to determine the underlying cause of spermatogenic failure. By identifying the specific cause, healthcare providers can develop an effective treatment plan to address the condition and improve fertility outcomes.
References:
[1] SC Esteves · 2018 · Cited by 16 — Spermatogenic failure has been recognized as the most severe presentation of male infertility in humans. [7] by LF Pisani · 2008 · Cited by 90 — In monogenic disorders, spermatogenic failure results from hypogonadotrophic hypogonadism, cryptorchidism, delayed puberty or male pseudohermaphroditism and ... [8] Other causes of low sperm numbers include long-term sickness (such as kidney failure), childhood infections (such as mumps) and chromosome or hormone problems ...
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0111924
- core#notation
- DOID:0111924
- oboInOwl#hasDbXref
- MIM:617961
- rdf-schema#label
- spermatogenic failure 26
- oboInOwl#hasExactSynonym
- SPGF26
- IAO_0000115
- A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2.
- rdf-schema#subClassOf
- t383857
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_6432
- owl#annotatedSource
- t383973
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