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spermatogenic failure 19
Description
Spermatogenic failure, also known as testicular failure, is a condition characterized by the impairment of the endocrine and/or exocrine functions of the testis. This can result in decreased or absent sperm production, leading to male infertility.
Causes and Symptoms
- Spermatogenic failure can be caused by various factors, including genetic abnormalities, chromosomal defects, and environmental toxins [1].
- The condition is often associated with nonobstructive azoospermia (NOA), which means that there are no sperm present in the ejaculate due to a problem within the testes themselves [2].
- Other symptoms may include decreased testosterone production, leading to low libido and other endocrine-related issues [1].
Types of Spermatogenic Failure
There are several types of spermatogenic failure, including:
- Spermatogenic failure-64 (SPGF64): characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia [3].
- Spermatogenic failure-30 (SPGF30): characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia, where only a few sperm are present in the ejaculate [4].
Treatment and Prognosis
Currently, there is no cure for spermatogenic failure. Treatment options may include assisted reproductive technologies (ART) such as IVF or ICSI, which can help individuals conceive despite their infertility [5]. The prognosis for spermatogenic failure varies depending on the underlying cause and severity of the condition.
References:
[1] by R Ramasamy · 2012 · Cited by 65 [2] by SC Esteves · 2018 · Cited by 16 [3] Spermatogenic failure-64 (SPGF64) [4] Spermatogenic failure-30 (SPGF30)
Additional Characteristics
- Spermatogenic failure
- Nonobstructive azoospermia (NOA)
- Decreased testosterone production
- Oligoasthenoteratozoospermia or cryptozoospermia
- IVF or ICSI assisted reproductive technologies
Signs and Symptoms
Spermatogenic Failure: Signs and Symptoms
Spermatogenic failure, also known as male infertility or azoospermia, occurs when the body is unable to produce sperm. This can be caused by various factors such as hormonal imbalances, genetic conditions, or physical abnormalities.
- Decreased facial or body hair: One of the signs of spermatogenic failure is decreased facial or body hair, which may indicate a chromosomal or hormonal abnormality [1].
- Low sperm count: A lower than normal sperm count (fewer than 15 million sperm per milliliter) can also be an indication of spermatogenic failure [1].
- Azoospermia: In some cases, men may experience azoospermia, which means there is no sperm in their ejaculate [5].
- Infertility: Spermatogenic failure can lead to infertility, making it difficult for a man to conceive with his partner.
- Other signs and symptoms: Men experiencing spermatogenic failure may also exhibit other signs and symptoms such as depression, loss, grief, inadequacy, or failure [2].
Causes of Spermatogenic Failure
Spermatogenic failure can be caused by various factors including:
- Hormonal imbalances: Hormonal problems can affect the production of sperm.
- Genetic conditions: Certain genetic conditions such as Y chromosome infertility can cause spermatogenic failure [7].
- Physical abnormalities: Physical abnormalities or blockages in the reproductive system can also lead to spermatogenic failure.
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 ... [Context: 1]
[2] What are the signs of unhealthy sperm? · Depression. · Loss. · Grief. · Inadequacy. · Failure. [Context: 2]
[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. [Context: 5]
[7] Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 ... [Context: 7]
Additional Symptoms
- Azoospermia
- Low sperm count
- Loss
- Inadequacy
- Grief
- Decreased facial or body hair
- Failure
- infertility
- depression
Diagnostic Tests
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 the underlying causes of spermatogenic failure.
- Karyotype Analysis (KA): This genetic test examines the number and structure of chromosomes in the body's cells [2]. KA is commonly used to diagnose chromosomal abnormalities that may be contributing to spermatogenic failure.
- Y-Chromosome Microdeletion Screening: This test detects microdeletions on the Y chromosome, which can lead to spermatogenic failure [9].
- CFTR Gene Mutation Testing: The cystic fibrosis transmembrane conductance regulator (CFTR) gene is responsible for producing a protein that helps regulate sperm production. Mutations in this gene can cause spermatogenic failure [9].
- Semen Analysis: A semen analysis, also known as a sperm count, measures the number of sperm present in a semen sample [4]. This test can help identify low sperm counts or other abnormalities.
- Testicular Biopsy: In some cases, a testicular biopsy may be performed to examine the tissue and cells within the testes. This test can provide more detailed information about the underlying causes of spermatogenic failure [5].
- Male Endocrine Profile: This test evaluates hormone levels in the body, which can help identify hormonal imbalances that may be contributing to spermatogenic failure [3].
These diagnostic tests can help healthcare providers identify the underlying causes of spermatogenic failure and develop an effective treatment plan.
References: [1] Not provided (search results did not contain relevant information) [2] Context 2 [3] Context 3 [4] Context 4 [5] Context 5 [9] Context 9
Additional Diagnostic Tests
- Testicular Biopsy
- Semen Analysis
- Male Endocrine Profile
- Karyotype Analysis (KA)
- Y-Chromosome Microdeletion Screening
- CFTR Gene Mutation Testing
Treatment
Treatment Options for Spermatogenic Failure
Spermatogenic failure, also known as non-obstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm. While there are various treatment options available, drug treatment has shown some promise in certain cases.
- Gonadotropins: These hormones have been used to stimulate spermatogenesis in men with hypogonadotropic hypogonadism (HH). Studies have demonstrated their effectiveness in inducing spermatogenesis and improving sperm count [4][5].
- HCG and rhFSH: Treatment with human chorionic gonadotropin (hCG) and recombinant follicle-stimulating hormone (rhFSH) has been shown to be effective in some men with NOA. This treatment involves injecting hCG three times a week, along with rhFSH [6].
- Other medications: Various other drugs have been used to treat spermatogenic failure, including testosterone, anti-estrogens, and anti-androgens. However, the effectiveness of these treatments is still being researched and debated [5].
Important Considerations
It's essential to note that drug treatment for spermatogenic failure may not be effective in all cases, and each individual's response to treatment can vary. Additionally, treatment with gonadotropins or other medications can have potential side effects, such as epididymitis [11].
Alternatives to Drug Treatment
In some cases, alternative treatments such as micro-assisted fertilization (MAF) may be considered for men with incomplete spermatogenic failure. However, in cases of complete spermatogenic failure, donor insemination or adoption may be the only viable options [15].
Recommended Medications
- Gonadotropins
- HCG and rhFSH
- Anti-estrogens
- Anti-androgens
- testosterone
- Testosterone
💊 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, is a condition where the testes are unable to produce sperm. The differential diagnosis for this condition involves ruling out other causes of infertility and identifying the underlying cause of spermatogenic failure.
Causes of Spermatogenic Failure
- Hypogonadotropic hypogonadism: This is a condition where the pituitary gland does not produce enough hormones to stimulate the testes to produce sperm. [1]
- Cryptorchidism: Also known as undescended testes, this is a condition where one or both testes do not descend into the scrotum during fetal development. [6]
- Delayed puberty: This is a condition where puberty is delayed or does not occur at all in males. [6]
- Male pseudohermaphroditism: This is a rare genetic disorder where an individual is born with both male and female reproductive organs. [6]
Other Conditions to Consider
- Obstructive azoospermia: This is a condition where the epididymis or vas deferens are blocked, preventing sperm from being ejaculated. [9]
- Hypogonadism: This is a condition where the testes do not produce enough testosterone, which can affect spermatogenesis. [8]
Diagnostic Tests
To diagnose spermatogenic failure, the following tests may be performed:
- Semen analysis: This involves analyzing the semen to determine if there are any sperm present. [2]
- Hormonal assessment: This involves testing hormone levels in the blood or urine to determine if there are any hormonal imbalances that could be contributing to spermatogenic failure. [4]
- Genetic tests: These may be performed to rule out genetic disorders that could be causing spermatogenic failure. [6]
References
[1] DL Andrade (2021) - A differential diagnosis between obstructive azoospermia, hypogonadotropic hypogonadism, and spermatogenic failure should be established as soon as possible.
[2] F Tüttelmann (2018) - Descriptive diagnoses are “oligozoospermia” (reduced sperm count), “asthenozoospermia” (reduced sperm motility), “teratozoospermia” (reduced sperm morphology).
[4] DL Andrade (2021) - It includes a detailed medical history and physical examination, semen analysis, hormonal assessment, genetic tests, and imaging studies.
[6] LF Pisani (2008) - In monogenic disorders, spermatogenic failure results from hypogonadotrophic hypogonadism, cryptorchidism, delayed puberty or male pseudohermaphroditism and ...
[8] F Tüttelmann (2018) - Men with this type of severe spermatogenic failure may also exhibit reduced testicular volume, decreased serum testosterone and increased LH levels.
[9] SC Esteves (2015) - We only perform testicular biopsies in the rare cases where a differential diagnosis between obstructive and non- obstructive azoospermia could not be established.
Additional Differential Diagnoses
- Obstructive azoospermia
- Male pseudohermaphroditism
- hypogonadotropic hypogonadism
- hypogonadism
- cryptorchidism
- obsolete delayed puberty
Additional Information
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- owl#annotatedSource
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- MIM:617592
- IAO_0000115
- A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25.
- rdf-schema#label
- spermatogenic failure 19
- oboInOwl#hasExactSynonym
- SPGF19
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- t345740
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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