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spermatogenic failure 41
Description
Spermatogenic failure refers to a condition where there is an interruption in the normal development and maturation of sperm cells within the testes, leading to infertility.
- This condition can manifest as azoospermia (no sperm), oligozoospermia (low sperm count), teratozoospermia (abnormal sperm morphology), or asthenozoospermia (reduced sperm motility) [13].
- Spermatogenic failure-41 is characterized by male infertility due to nonobstructive azoospermia, where the production of mature sperm cells is disrupted, resulting in a complete absence of sperm in the ejaculate [15].
The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes are involved in spermatogenesis, and mutations or deletions in these genes can lead to various forms of male infertility, including spermatogenic failure [13].
Additional Characteristics
- azoospermia
- Spermatogenic failure
- oligozoospermia
- teratozoospermia
- asthenozoospermia
- Spermatogenic failure-41
Signs and Symptoms
Diagnostic Tests
Diagnosing Spermatogenic Failure
Spermatogenic failure, also known as testicular or spermatogenic failure, is a severe form of male infertility where the testes are unable to produce sperm. Diagnosing this condition requires a combination of physical examination, medical history, and various tests.
- Physical Examination: A thorough physical exam of the testes can help identify any abnormalities, such as small or soft testicles [9].
- Blood Tests: Blood tests, including FSH (Follicle-Stimulating Hormone) levels, can help determine if the zero sperm count is due to a production or transport problem. Typically, FSH levels are less than approximately 7.6 IU/L in cases of spermatogenic failure [2].
- Semen Analysis: A semen analysis is one of the primary tests used to diagnose male infertility and can indicate spermatogenic failure if it shows a very low number of sperm or no sperm at all [3, 5].
- Testicular Biopsy: In some cases, a testicular biopsy may be performed to determine the histological diagnosis of azoospermia (no sperm) and to extract spermatozoa for assisted reproductive techniques [6, 7].
These diagnostic tests can help identify spermatogenic failure and guide further treatment options.
Treatment
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: Some studies suggest that hormonal therapy may be beneficial in stimulating spermatogenesis in men with nonobstructive azoospermia (NOA) associated with primary spermatogenic failure [10]. However, the effectiveness of this approach is still a topic of debate.
- Gonadotropin Treatment: Gonadotropins, such as human chorionic gonadotropin (hCG), have been used to stimulate testicular function and spermatogenesis in some cases [9]. However, there is no consensus on the use of gonadotropins in NOA males with spermatogenic failure.
- Antioxidant Therapy: Antioxidants, such as vitamins and minerals, may help reduce oxidative stress and improve sperm quality. However, their effectiveness in treating spermatogenic failure is still unclear [1].
- Other Therapies: Other therapies, such as testosterone replacement therapy, have been explored to address the underlying hormonal imbalances associated with spermatogenic failure. However, these approaches are typically reserved for men with secondary testicular failure rather than primary spermatogenic failure.
Current Limitations
While various treatment options have been explored, there is currently no effective medical treatment that can restore spermatogenesis in the majority of NOA patients [12]. In such cases, assisted reproductive technologies (ART), such as intracytoplasmic sperm injection (ICSI), may be necessary to achieve pregnancy.
References:
[1] R Ramasamy · 2012 · Cited by 65 [9] May 22, 2024 [10] Primary testicular failure may result in endocrine failure, leading to testosterone deficiency or exocrine failure causing impaired spermatogenesis and subsequently male infertility. [12] At the present time, there is no treatment that can restore spermatogenesis in the majority of NOA patients, apart from those with secondary testicular failure.
Recommended Medications
- Gonadotropin Treatment
- Hormonal Therapy
- Antioxidant Therapy
- Testosterone Replacement 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
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. A differential diagnosis between obstructive azoospermia, hypogonadotropic hypogonadism, and spermatogenic failure is essential for proper management.
Causes of Spermatogenic Failure
Spermatogenic failure can be caused by various factors, including:
- Genetic abnormalities: Klinefelter syndrome (47,XXY) is the most common genetic cause of NOA, affecting 10-15% of cases [10].
- Hormonal imbalances: Hypogonadotropic hypogonadism can lead to spermatogenic failure due to low levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) [7].
- Testicular volume reduction: Men with severe spermatogenic failure may exhibit reduced testicular volume, decreased serum testosterone, and increased LH levels [9].
Diagnostic Approaches
To establish a differential diagnosis, the following approaches can be taken:
- Semen analysis: Semen analysis should be accompanied by measurement of serum hormone levels, including FSH and LH.
- Genetic testing: Y chromosome microdeletion screening using multiplex PCR blood test can help identify genetic causes of spermatogenic failure [3].
- Testicular biopsy: A testicular biopsy may need to be performed to make a definitive diagnosis, especially when FSH levels alone are not sufficient for differentiation [13].
Clinical Management
The clinical management of azoospermic patients with infertility involves a detailed medical history and physical examination, semen analysis, hormonal assessment, genetic tests, and imaging studies. A differential diagnosis between obstructive and nonobstructive azoospermia is essential for proper management.
References:
[3] - Y chromosome microdeletion screening using multiplex PCR blood test. [7] - Hypogonadotropic hypogonadism can lead to spermatogenic failure due to low levels of FSH and LH. [9] - Men with severe spermatogenic failure may exhibit reduced testicular volume, decreased serum testosterone, and increased LH levels. [10] - Klinefelter syndrome (47,XXY) is the most common genetic cause of NOA, affecting 10-15% of cases. [13] - A testicular biopsy may need to be performed to make a definitive diagnosis, especially when FSH levels alone are not sufficient for differentiation.
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0111912
- core#notation
- DOID:0111912
- oboInOwl#hasDbXref
- MIM:618670
- IAO_0000115
- A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2.
- rdf-schema#label
- spermatogenic failure 41
- oboInOwl#hasExactSynonym
- SPGF41
- rdf-schema#subClassOf
- t383994
- 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_6420
- owl#annotatedSource
- t383911
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