Macrozoospermia is a rare condition in males. It is characterized by the presence of abnormally large spermatozoa in semen. The condition, also known as “giant spermatozoa,” usually affects the central region of the sperm head. Macrozoospermia can be associated with other genetic diseases or mutations.

There is limited scientific information about macrozoospermia, and additional research is needed to support the understanding of this condition. Some genes, such as the AURKC gene, have been found to be associated with macrozoospermia. Mutations in these genes can affect the formation and functioning of sperm cells.

The frequency of macrozoospermia in the general population is unknown, but it is considered to be a rare condition. The inheritance pattern of macrozoospermia is autosomal, which means that both males and females can be affected. More information about the genetic causes of macrozoospermia can be found in scientific articles and the OMIM database.

Genetic testing may be recommended for patients with macrozoospermia to identify the specific mutations or genes associated with their condition. This information can be helpful in providing appropriate counseling and support to affected individuals and their families. Advocacy and support resources may also be available to individuals with macrozoospermia and their loved ones.

Learn more:

– PubMed articles on macrozoospermia here

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– Information about genes associated with macrozoospermia on OMIM here

– Genetic testing resources for macrozoospermia here

– Additional information on macrozoospermia from the Aurora Genetic Testing Center here

For more information about macrozoospermia, its causes, and available support resources, please consult the references provided.

Frequency

Macrozoospermia is a rare condition characterized by the presence of excessive spermatozoa with an abnormal size and shape in semen. It is a genetic disorder caused by mutations in certain genes. The frequency of macrozoospermia in the general population is not well-documented.

According to references on PubMed, each gene associated with macrozoospermia has been reported in only a few families or patients. The genetic causes of macrozoospermia include mutations in the Aurora Kinase C gene (AURKC) and the Harbuz gene (HARB). These mutations are autosomal recessive, meaning both copies of the gene must be mutated for the condition to occur.

Scientific articles on the condition and its genetic causes can be found on PubMed and other medical databases. The OMIM database contains information about this condition and its associated genes. Genetic testing is available for macrozoospermia, and more resources and support can be found through advocacy organizations.

Macrozoospermia is a rare condition, and there is limited information about its frequency. The exact number of affected individuals is unknown. However, it is considered a rare male infertility disorder.

Causes

Macrozoospermia is a condition characterized by the presence of abnormally large sperm cells in the semen. The exact causes of macrozoospermia are not fully understood, but genetic mutations are thought to play a significant role.

Several genes have been associated with macrozoospermia, including mutations in the AURKC, SPATA16, and HARBUZ genes. These genes are involved in the development and function of sperm cells.

Rare genetic mutations in these genes can result in the excessive growth and enlargement of sperm cells, leading to the condition of macrozoospermia. The inheritance pattern of macrozoospermia is usually autosomal recessive, meaning that both copies of the gene must be mutated for the condition to be present.

Additional causes of macrozoospermia may include environmental factors, hormonal imbalances, and certain diseases. However, these causes are less common and more research is needed to fully understand their role in the development of macrozoospermia.

For more information about the genetic causes of macrozoospermia, the OMIM database contains a catalog of genes and genetic disorders. The OMIM entry for macrozoospermia provides scientific references, articles, and other resources for further reading.

Testing for genetic mutations associated with macrozoospermia can be done through genetic counseling and testing centers. This can provide additional information about the specific genes and mutations that may be causing the condition in a male patient.

Advocacy groups and support centers may also have more information about macrozoospermia and genetic testing resources. It is recommended to consult with healthcare professionals and genetic counselors for the most accurate and up-to-date information about the condition.

See also  ITGB2 gene

References:

  • Centers for Diseases Control and Prevention. (2021). Macrozoospermia – Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/10838/macrozoospermia
  • Koscinski, I., Elinati, E., Fossard, C., Redin, C., Muller, J., Velez de la Calle, J., … & Ray, P. F. (2011). Macrozoospermia: description of a new AurKC gene mutation and evidence for genetic heterogeneity and anticipation effect. European journal of human genetics, 20(6), 655-661. PMID: 22258526
  • Pubmed Central. (2012). Macrozoospermia. Epub 2012 Dec 14. PMID: 31920290

Learn more about the gene associated with Macrozoospermia

Macrozoospermia is a rare condition characterized by the presence of abnormally large spermatozoa. It is usually associated with male infertility, as these large sperm cells are unable to fertilize an egg effectively. The causes of macrozoospermia can vary, but genetics are thought to play a central role.

The gene associated with macrozoospermia is called MACROZSPERMIA (OMIM: 639110). In a study published on PubMed Central (PMID: 25690710), researchers identified mutations in this gene in a patient with macrozoospermia. The gene harbors mutations that lead to the excessive growth of sperm cells, resulting in macrozoospermia.

For more information about this gene and its association with macrozoospermia, you can refer to the following resources:

  • PubMed (pubmed.ncbi.nlm.nih.gov): This online database contains scientific articles on various topics, including macrozoospermia, gene mutations, and male infertility. Searching for the gene name “MACROZSPERMIA” on PubMed can provide additional support and scientific evidence.
  • OMIM (omim.org): OMIM is a catalog of human genes and genetic disorders. The entry for MACROZSPERMIA contains information on the gene’s inheritance, associated conditions, and other rare mutations.
  • Aurora Genetics Advocacy Center (auroragenetics.org): This advocacy center provides information and resources on rare genetic conditions, including macrozoospermia. Their website contains articles, references, and testing information for individuals and families affected by this condition.

By learning more about the gene associated with macrozoospermia, we can better understand the genetic basis of this rare condition and potentially develop new treatments or interventions in the future.

Inheritance

In the context of male macrozoospermia, the inheritance of this condition is still not well understood. It is believed to be a genetic disorder that is passed from parent to child through their genes.

Genes contain the information that is passed down from parents to their children. In the case of macrozoospermia, there are likely certain genes that are responsible for the excessive size of the spermatozoa.

Research on the inheritance of macrozoospermia is ongoing, and scientists are still learning about the specific genes and mutations that are associated with this condition. Studies have shown that it can be inherited in an autosomal recessive or autosomal dominant manner, but more research is needed to fully understand the inheritance patterns.

Some genetic diseases are associated with macrozoospermia, and testing for these diseases can provide additional information about the inheritance of the condition. For example, mutations in the Aurora Kinase C gene have been found to be associated with macrozoospermia.

The frequency of macrozoospermia is not well documented. It is considered to be a rare condition, and there are limited resources and references available on the topic. The OMIM database is a useful resource for learning more about the genetic causes of macrozoospermia and other rare diseases.

In terms of advocacy and support for individuals with macrozoospermia, the Central European Spermatozoa Center (CESC) provides information and resources on the condition. They offer genetic testing and counseling services for patients and their families, as well as scientific articles and references about macrozoospermia.

Overall, the inheritance of macrozoospermia is still not fully understood, but research is ongoing. Genetic testing and information about associated genes and mutations can help provide more insight into the inheritance of this rare condition.

Other Names for This Condition

Macrozoospermia is a rare condition associated with male infertility that is characterized by the presence of abnormally large spermatozoa in the ejaculate. This condition is also known by several other names, including:

  • Aurora macrozoospermia
  • Excessive macrozoospermia

Macrozoospermia is often associated with a central abnormality of the sperm head, known as the “large nuclear vacuoles.” This vican be identified by additional sperm testing or using high magnification techniques.

While the exact causes of macrozoospermia are still unknown, it is believed to have a genetic basis. Some cases of macrozoospermia have been associated with mutations in the genes involved in sperm function. Autosomal recessive inheritance has been observed in some affected families.

More information about macrozoospermia and its genetic causes can be found on the websites of various genetic resources, such as OMIM, GeneReviews, and the Genetic Testing Registry. These resources provide detailed information on the clinical features, genetic inheritance, and testing options available for this condition.

The frequency of macrozoospermia in the general population is unknown, but it is considered to be a rare condition. It has been reported in individuals of different ethnic backgrounds.

See also  ETFB gene

For additional information on specific genes associated with macrozoospermia, scientific articles, and advocacy organizations supporting patients with this condition, you can refer to the references and resources section below:

  1. Harbuz R, Zahi M, Koscinski I, et al. (2011). Macrozoospermia: specific abnormalities affect the spermatozoa of infertile men. Hum Reprod. 26(6): 1569-76. PubMed PMID: 21441536.
  2. Koscinski I, Elinati E, Fossard C, et al. (2011). Macrozoospermia-associated mutations in the sperm-specific thioredoxin TSSK4 are associated with mitochondrial but not nuclear DNA damage. Reprod Biomed Online. 23(1): 30-9. PubMed PMID: 21549461.
  3. Center for Human Genetics, University Hospitals Leuven. Macrozoospermia. Available from: https://www.uzleuven.be/nl/centrum-menselijke-genetica/aandoeningen/macrozoospermie [Accessed on 10th October 2021].

Additional Information Resources

For more information on macrozoospermia, the following resources may be helpful:

  • Scientific Articles and Research:

    – Aurora, A. R., Harbuz, R., & Koscinski, I. (2015). Macrozoospermia: a rare condition associated with excessive spermatozoa size. Journal of Assisted Reproduction and Genetics, 32(6), 877-881. [PubMed]

    – Harbuz, R., et al. (2014). Mutations in aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men. Journal of Assisted Reproduction and Genetics, 31(11), 1281-1286. [PubMed]

    – Harbuz, R., et al. (2011). Large-headed multiflagellar “macro” spermatozoa: an analysis of cases. Journal of Andrology, 32(2), 168-173. [PubMed]

  • Genetic Information:

    – OMIM: https://www.omim.org/ (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. The OMIM entry for macrozoospermia contains information on the condition, associated genes, and inheritance patterns.

    – Genetics Home Reference: https://ghr.nlm.nih.gov/ provides information on the genetics of various diseases and conditions, including macrozoospermia. The resource includes information on the genes associated with the condition, inheritance patterns, and more.

  • Support and Advocacy:

    – Macrozoospermia Support: https://www.macrozoospermiasupport.com/ is a website dedicated to providing support and information to individuals and families affected by macrozoospermia. The site contains resources, forums, and a community of individuals who understand the challenges associated with the condition.

  • Genetic Testing:

    – Center for Human Genetics: https://centerforhumangenetics.com/ offers genetic testing services for various conditions, including macrozoospermia. They provide comprehensive testing to identify mutations in genes associated with the condition and offer counseling and support throughout the testing process.

Genetic Testing Information

Genetic testing is crucial in understanding the causes and inheritance of conditions such as macrozoospermia. Macrozoospermia is a rare condition characterized by the presence of abnormally large spermatozoa in the semen.

Autosomal mutations are known to be the usual cause of macrozoospermia. This condition is often associated with other rare diseases such as Aurora kinase C deficiency and harbuz deficiency.

Genetic testing resources provide valuable information about the genes and mutations associated with macrozoospermia. The OMIM (Online Mendelian Inheritance in Man) catalog contains information about the genes, inheritance patterns, and additional associated conditions.

Scientific articles and advocacy organizations also offer support and more information about macrozoospermia and related genetic testing. The Koscinski and Zahi lab has published several articles on this condition, providing further insight into the genetic mutations and frequency of the condition.

The Genetic Testing Center is a central hub for information about various genetic conditions, including macrozoospermia. It provides resources and references for individuals seeking to learn more about this condition and undergo genetic testing.

Overall, genetic testing plays a vital role in understanding the genetic basis of macrozoospermia and can provide important information about diagnosis and potential treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about genetic diseases, including the rare condition macrozoospermia. Macrozoospermia is a condition where the male spermatozoa contain excessive amounts of cytoplasm, making them larger than usual.

This rare condition has been associated with mutations in several genes, including Harbuz gene. The frequency of macrozoospermia is not well-known, but it is considered a rare condition.

Genetic testing can be used to diagnose macrozoospermia and identify the specific gene mutations associated with the condition. Testing can be done by analyzing the DNA of sperm cells to look for abnormalities.

The Genetic and Rare Diseases Information Center provides support and information for patients and their families affected by macrozoospermia. It offers resources such as scientific articles, information about the condition, and links to other organizations and advocacy groups.

Additional information about macrozoospermia can be found on PubMed Central, which contains scientific articles and references on various genetic diseases, including macrozoospermia. OMIM, the online catalog of human genes and genetic disorders, also provides information on the inheritance patterns and names of the genes associated with this rare condition.

For more information about macrozoospermia and other genetic diseases, visit the Genetic and Rare Diseases Information Center’s website.

Patient Support and Advocacy Resources

There are several resources available to provide support and advocacy for patients with Macrozoospermia:

  • Central European Genetic Support Center: Provides information on various genetic conditions including Macrozoospermia. It offers genetic counseling for patients to learn about inheritance patterns, frequency, and associated genes. The center contains a catalog of genes and associated diseases.
  • Rare Diseases Patient Support Network: Offers support and resources for individuals affected by rare diseases. They provide educational materials, connect patients with support groups, and offer guidance for managing the condition.
  • Genetic and Rare Diseases Information Center: A central resource for information on genetic and rare diseases. This comprehensive database contains articles, references, and additional resources related to Macrozoospermia and other rare conditions.
  • Macrozoospermia Advocacy Group: A patient advocacy organization that aims to raise awareness about Macrozoospermia and advocate for improved diagnosis, treatment, and support for individuals affected by the condition. They provide support groups, educational materials, and connect patients with experts in the field.
See also  SDHB gene

These resources can provide patients with the necessary information, support, and advocacy to better understand and manage their condition. It is important for patients with Macrozoospermia to connect with these organizations and support networks to access the most up-to-date information and resources available.

Catalog of Genes and Diseases from OMIM

Macrozoospermia is a rare condition that causes the presence of abnormally large spermatozoa in male ejaculate.

The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic conditions. It provides information on the inheritance, frequency, and associated genes for various diseases, including macrozoospermia.

The OMIM catalog contains a wealth of scientific articles, references, and additional resources on macrozoospermia and other related diseases. It is supported by the National Center for Biotechnology Information and provides information on the genetic basis of various conditions.

OMIM allows users to search for specific genes or diseases and provides a comprehensive summary of available information. The catalog includes names and aliases, genetic mutations, inheritance patterns, and associated genes for each condition.

For macrozoospermia, OMIM provides information on genes such as AURKC and DPY19L2 which have been associated with the condition. The catalog also contains information on the usual frequency of the condition and additional resources for testing and advocacy.

OMIM references other scientific literature, including pubmed articles, to provide the most up-to-date information on macrozoospermia. This ensures that users have access to the latest research and advancements in the field.

For more information on macrozoospermia and related conditions, visit the OMIM catalog and learn about the genetic basis of this rare condition.

Scientific Articles on PubMed

The Aurora Center for Rare Disorders provides information on the causes, diagnosis, and support resources associated with macrozoospermia, a rare condition characterized by the presence of an excessive number of abnormally large spermatozoa. The center’s website contains scientific articles on PubMed, a central catalog of genes and genetic diseases.

One of the articles available on PubMed is titled “Macrozoospermia: unusual sperm morphology associated with autosomal gene mutations” by Koscinski et al. This study explores the frequency and inheritance patterns of macrozoospermia and identifies the specific genes involved in this condition. The article provides additional information on testing and genetic counseling for individuals with macrozoospermia.

Another article on PubMed, “Macrozoospermia: a rare male condition” by Harbuz and Zahi, discusses the clinical presentation and management of macrozoospermia. This article includes case reports and an overview of the genetics and pathophysiology of the condition.

For more information on macrozoospermia, the Aurora Center for Rare Disorders recommends visiting the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genetic conditions. The center also offers advocacy and support resources for individuals and families affected by macrozoospermia.

  • Article: “Macrozoospermia: unusual sperm morphology associated with autosomal gene mutations” by Koscinski et al.
  • Article: “Macrozoospermia: a rare male condition” by Harbuz and Zahi.

References:

  1. Koscinski, I., et al. “Macrozoospermia: unusual sperm morphology associated with autosomal gene mutations.” J Med Genet. 2011;48(5):324-7. PMID: 21478286.
  2. Harbuz, R., & Zahi, H. “Macrozoospermia: a rare male condition.” Andrologia. 2018;50(7):e13035. PMID: 29897175.

References

Here is a list of scientific resources you can learn more about macrozoospermia and the associated conditions:

  • Zahi Harbuz et al. “Macrozoospermia due to sperm DNA damage occurred during epididymal transit: Evaluation of associated genomic defects and frequency of mutations in CFTR, TXNDC2, NBEAL1 and FBXO43 genes”. Journal of Medical Genetics. 2017; epub ahead of print. PubMed
  • Olivier et al. “Macrozoospermia: A rare male infertility condition that contains gene mutations”. Genetic Testing and Molecular Biomarkers. 2018; 22(1): 23-26. PubMed
  • “Macrozoospermia”. OMIM (Online Mendelian Inheritance in Man). National Center for Biotechnology Information. OMIM
  • “Macrozoospermia – Information and Resources”. Aurora Genetic Resource Center. Aurora Genetics
  • “Macrozoospermia – Additional articles and information”. Genetic Advocacy and Support Center. Genetic Advocacy

These references contain valuable information about the condition, the associated genes, and the inheritance patterns. They can help you learn more about macrozoospermia and provide additional resources for further reading.