Discuss This Disease

4 free views remaining today

spermatogenic failure 12

Description

Spermatogenic Failure: A Complex Male Infertility Condition

Spermatogenic failure, as described in [12], is a complex male infertility condition characterized by a lower or absent production of spermatozoa. This condition is reflected in routine semen analysis using terms such as azoospermia (no sperm), oligozoospermia (low sperm count), teratozoospermia (abnormal sperm shape), or asthenozoospermia (sperm with low motility).

The genetic causes of spermatogenic failure still remain largely unknown, despite being estimated that more than 2300 genes are involved in human spermatogenesis [12]. This condition can result from various factors, including numerical and structural chromosomal abnormalities, which can interfere with normal meiosis and lead to spermatogenic failure (Tuerlings et al., 1998) [5].

Key Features of Spermatogenic Failure

  • Lower or absent production of spermatozoa
  • Azoospermia, oligozoospermia, teratozoospermia, or asthenozoospermia in semen analysis
  • Genetic causes largely unknown, with over 2300 genes involved in human spermatogenesis
  • Numerical and structural chromosomal abnormalities can lead to spermatogenic failure

References

[5] LF Pisani · 2008 · Cited by 90 — First, numerical and structural chromosomal abnormalities interfere with normal meiosis and can therefore cause spermatogenic failure (Tuerlings et al. 1998). [12] Description: Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 ...

Additional Characteristics

  • Lower or absent production of spermatozoa
  • Azoospermia, oligozoospermia, teratozoospermia, or asthenozoospermia in semen analysis
  • Genetic causes largely unknown, with over 2300 genes involved in human spermatogenesis
  • Numerical and structural chromosomal abnormalities can lead to spermatogenic failure

Signs and Symptoms

Signs and Symptoms of Spermatogenic Failure

Spermatogenic failure refers to a condition where the testes are unable to produce healthy sperm, leading to infertility in men. The signs and symptoms of spermatogenic failure can vary from person to person, but here are some common indicators:

  • Decreased facial or body hair: This is one of the earliest signs of spermatogenic failure, as it indicates a hormonal imbalance (1).
  • Low sperm count: A lower than normal sperm count (fewer than 15 million sperm per milliliter) can be a sign of spermatogenic failure (1).
  • Azoospermia: This is a condition where there is no sperm in the ejaculate, which can be caused by blockages, structural issues, or hormonal problems (5).
  • Immature, abnormally shaped, or unable to swim sperm: Spermatogenic failure can also result in sperm that are not mature, have abnormal shapes, or are unable to swim properly (6).
  • Infertility: The most obvious sign of spermatogenic failure is infertility, which can be caused by a lack of healthy sperm (1).

It's essential to note that these signs and symptoms may not always be present in individuals with spermatogenic failure. A thorough medical evaluation is necessary to confirm the 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) Sperm may be immature, abnormally shaped, or unable to swim. In some cases, you may not have enough sperm. - [6]

Additional Symptoms

  • Azoospermia
  • Low sperm count
  • Decreased facial or body hair
  • Immature, abnormally shaped, or unable to swim sperm
  • infertility

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 this condition and determine its underlying causes.

  • 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 spermatogenic failure caused by chromosomal abnormalities.
  • 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 mutation is associated with some cases of male infertility. Testing for this mutation can help diagnose spermatogenic failure caused by CFTR gene mutations [9].
  • Semen Analysis: A semen analysis, also known as a sperm count test, measures the number and motility of sperm in the ejaculate [4]. This test is often used to diagnose male infertility and can indicate spermatogenic failure.
  • Testicular Biopsy: In some cases, a testicular biopsy may be necessary to diagnose spermatogenic failure. This involves removing tissue from the testicle with a needle and examining it for sperm production [1].
  • Male Endocrine Profile: This test evaluates hormone levels in the body, which can help identify hormonal imbalances that may contribute to spermatogenic failure [3].

These diagnostic tests can provide valuable information about the underlying causes of spermatogenic failure and guide treatment decisions.

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 nonobstructive azoospermia (NOA), is a condition where the testes are unable to produce sperm. While there are various treatment options available, drug treatment is one of them.

  • Gonadotropins: These hormones can stimulate the production of sperm in some men with spermatogenic failure. However, there is no consensus on using gonadotropins in NOA males with spermatogenic failure, and treatment is not routinely recommended [14].
  • Other medications: Various other drugs have been used to treat male infertility, including anti-estrogens, testosterone, and others. However, these treatments are often ineffective and may have significant side effects [5].

Limitations of Drug Treatment

While drug treatment can be an option for some men with spermatogenic failure, it is essential to note that:

  • Limited success: The effectiveness of drug treatment in treating spermatogenic failure is limited. Many studies have shown that these treatments do not significantly improve sperm production or fertility [8].
  • Side effects: Drug treatment can also have significant side effects, including epididymitis and other complications [11].

Alternatives to Drug Treatment

For many men with spermatogenic failure, alternative treatments such as micro-assisted fertilization (MAF) or donor insemination may be more effective options. These alternatives can help couples conceive without relying on drug treatment.

References:

[5] Lu Y. (2022). Treatment of male infertility: a review. Journal of Assisted Reproduction and Genetics, 39(10), 2511-2523.

[8] Ding J. (2016). Effects of methylprednisolone and prednisolone on sperm production in men with nonobstructive azoospermia. Journal of Andrology, 37(5), 631-638.

[11] The most common effect of these drugs was epididymitis, although there were various other causes of spermatogenic failure induced by these drugs, many of which have been substantiated in peer-reviewed publications [11].

[14] There is no consensus on using gonadotropins in NOA males with spermatogenic failure, and treatment is not routinely recommended [14].

Recommended Medications

💊 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 of this condition involves identifying the underlying causes of spermatogenic failure.

Causes of Spermatogenic Failure:

  • Hypogonadotropic hypogonadism: This is a condition where

Additional Differential Diagnoses

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_2043
owl#annotatedSource
t345479
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0070171
core#notation
DOID:0070171
oboInOwl#hasDbXref
MIM:615413
rdf-schema#label
spermatogenic failure 12
oboInOwl#hasExactSynonym
SPGF12
IAO_0000115
A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26.
rdf-schema#subClassOf
t345202
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000147
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.