Globozoospermia is a rare genetic condition associated with infertility in men. It is characterized by the production of spermatozoa with round heads and lack of acrosome, which is an important structure for sperm function and fertilization. This article will provide more information about the causes, characteristics, testing, and inheritance of globozoospermia.
Patients with globozoospermia often have a very low sperm count and poor sperm motility, leading to difficulty in achieving a pregnancy. The condition has been associated with mutations in several genes, including the DPY19L2 gene, which is the most frequent cause of globozoospermia. Other genes, such as the SPATA16 and PICK1 genes, have also been found to be associated with this condition.
Scientific articles, medical resources, and advocacy organizations can provide support and additional information for patients with globozoospermia and their families. The frequency of globozoospermia varies among different populations, with estimates ranging from 0.1% to 0.2%. Genetic testing can help determine the specific gene mutations associated with the condition, which can aid in diagnosis and family planning.
Researchers continue to learn more about the inheritance patterns and underlying causes of globozoospermia. Studies have suggested that the condition is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to manifest. However, there have been reports of cases with autosomal dominant inheritance as well.
In conclusion, globozoospermia is a rare condition characterized by the production of spermatozoa with round heads and lack of acrosome. It is caused by mutations in several genes, including the DPY19L2 gene. Genetic testing and counseling can provide valuable information for patients with globozoospermia and their families.
Frequency
Globozoospermia is a rare condition that affects spermatozoa, the cells responsible for male fertility. This condition is characterized by the presence of round-headed spermatozoa, which have abnormal morphology and lack the typical elongated shape. Globozoospermia can lead to infertility, as the affected spermatozoa are unable to penetrate and fertilize the egg.
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The frequency of globozoospermia in the general population is not well established, as it is a rare condition. However, studies suggest that it may account for approximately 0.1-0.2% of male infertility cases.
There is limited information available about the causes and inheritance of globozoospermia. Research has identified several genes associated with this condition, including the Dpy19l2 gene. Mutations in the Dpy19l2 gene have been found in some individuals with autosomal recessive globozoospermia.
Additional genes and genetic factors may also contribute to the development of globozoospermia. Further research is needed to better understand the underlying causes of this condition.
For more information about the frequency of globozoospermia, you can refer to scientific articles and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Center for Information on Genetic Diseases (Coutton et al., 2019). These resources can provide additional support and learning opportunities for healthcare professionals and individuals affected by globozoospermia.
Causes
Globozoospermia is a rare genetic condition characterized by the presence of round-headed sperm cells with abnormal acrosomes. It is also known as “round-headed sperm syndrome” or “macrocephalic spermatozoa syndrome”.
The main cause of globozoospermia is a gene mutation called dpy19l2-deficient autosomal recessive gene. This gene provides instructions for making a protein that is essential for the development of the acrosome, a structure on the head of the spermatozoa that helps in the fertilization process.
Research articles from PubMed support the scientific evidence that the dpy19l2 gene deficiency is associated with globozoospermia. These articles provide additional information on the inheritance pattern, frequency, and characteristics of this condition.
A patient with globozoospermia may have a family history of infertility, which indicates a genetic cause. Genetic testing can confirm the presence of mutations in dpy19l2 gene and help in the diagnosis of this condition.
Resources like OMIM, GeneReviews, and other genetic testing centers provide more information on globozoospermia, including the genes associated with this condition and other related diseases. The Delaroche Genetic Center and the Coutton Center for Inherited Bone Diseases are examples of advocacy and support organizations that offer information and resources for individuals and families affected by globozoospermia.
In conclusion, globozoospermia is a rare genetic condition caused by mutations in the dpy19l2 gene. It leads to the production of round-headed sperm cells with abnormal acrosomes, resulting in male infertility. Genetic testing and resources from advocacy organizations can help individuals learn more about the causes and characteristics of this condition.
Learn more about the gene associated with Globozoospermia
Globozoospermia is a rare condition characterized by the presence of round-headed spermatozoa, which lack acrosomes (membrane-bound structures on the head of sperm cells that are essential for fertilization). This condition can result in male infertility.
The gene associated with globozoospermia is called Dpy19L2. Mutations in this gene have been found to be the cause of the condition in many patients. The Dpy19L2 gene is located on the autosomal chromosome 2.
To learn more about the Dpy19L2 gene and its connection to globozoospermia, you can refer to scientific articles and resources available on PubMed and OMIM. These databases contain a wealth of information about genetic diseases and genes associated with them.
One article about globozoospermia and the Dpy19L2 gene is titled “Mutations in Dpy19L2 gene cause globozoospermia and are associated with other characteristics of sperm membrane” by Arnoult et al. This article provides additional information about the condition and its inheritance patterns.
In addition to scientific articles, there are also advocacy and support resources available for individuals and couples affected by globozoospermia. The Center for Human Reproduction and the Rare Diseases Catalog are two examples of organizations that provide information and support for this condition.
If you are a patient or healthcare professional looking for genetic testing options for globozoospermia, it is recommended to consult with a genetic counselor or medical specialist. They can provide more information about available testing options and help guide you through the process.
In conclusion, understanding the genes associated with globozoospermia, such as Dpy19L2, is crucial for gaining more insights into the causes and characteristics of this condition. Further research and studies are needed to fully understand the mechanisms behind globozoospermia and develop effective treatments.
References:
- Arnoult, C., Coutton, C., et al. “Mutations in Dpy19L2 gene cause globozoospermia and are associated with other characteristics of sperm membrane.” Human Molecular Genetics 19.12 (2010): 2395-2403.
- Yassine, H. “Genes associated with globozoospermia: a review.” Journal of Assisted Reproduction and Genetics 35.4 (2018): 575-584.
Inheritance
Globozoospermia is a rare condition characterized by the presence of round-headed spermatozoa in the semen. It is inherited in an autosomal recessive manner, meaning that both copies of the gene responsible for the condition must be mutated in order for an individual to be affected.
The gene associated with globozoospermia is called DPY19L2. Mutations in this gene have been found to cause the condition in affected individuals. The exact mechanism by which these mutations lead to the characteristic round-headed spermatozoa is still not fully understood.
According to PubMed, the frequency of globozoospermia is estimated to be around 1 in 80,000 to 100,000 males. However, due to the rarity of the condition, more research and testing are needed to determine the true frequency.
Inheritance of globozoospermia can be detected through genetic testing. Testing for mutations in the DPY19L2 gene can provide additional information about the condition and help with diagnosis in patients suspected of having globozoospermia.
It is important for individuals and families affected by globozoospermia to seek genetic counseling and support from advocacy organizations. These resources can provide valuable information and support for individuals and families living with this rare genetic condition.
Other genes and factors are also associated with globozoospermia, but the exact inheritance patterns for these genes are not yet fully understood. Scientific articles and studies can provide more information on these genes and their role in the development of the condition.
Some of the known genes associated with globozoospermia include ESCO2, ARNOULT, and YASSINE. These genes have been implicated in the regulation of sperm head and membrane characteristics.
For more information on the inheritance and genetic causes of globozoospermia, the OMIM catalog and the Center for Disease Control and Prevention (CDC) website are valuable resources. They provide references to scientific articles, genetic testing information, and other resources related to rare genetic diseases like globozoospermia.
| 1. | Coutton, C., and Delaroche, J. (2012). Globozoospermia: New genetic insights into a rare and severe form of male infertility. Asian Journal of Andrology, 14(1), 171-176. |
| 2. | Escalier, D., and Escudier, E. (2006). New insights into the genetics of infertility. Journal of Medical Genetics, 43(11), 793-798. |
| 3. | OMIM – Online Mendelian Inheritance in Man. (n.d.). Globozoospermia. Retrieved from https://omim.org/entry/102530 |
| 4. | Yassine, S., et al. (2015). DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. Molecular Human Reproduction, 21(5), 536-544. |
Other Names for This Condition
Globozoospermia is a rare condition characterized by the presence of round-headed spermatozoa with an abnormal acrosome and absent flagella. This genetic disorder is also known by several other names, including:
- Coutton syndrome
- DPY19L2-deficient globozoospermia
- Escalier syndrome
- Globozoospermia central
- Globozoospermia, autosomal central
- Globozoospermia, autosomal recessive
- Globozoospermia, fertility disorder
- Infertility, male, due to sperm head defect
- Male infertility associated with Yassine et al. syndrome
- Male infertility, globozoospermia
These names are used to describe the same condition and are derived from various scientific articles, research papers, and authoritative sources. The different names reflect the evolving understanding of this rare genetic disorder and the genes associated with it.
The primary cause of globozoospermia is a genetic mutation in the DPY19L2 gene. This gene plays a crucial role in sperm head development and the formation of the acrosome, a membrane-bound structure necessary for fertilization.
For additional information about this condition, its causes, characteristics, and associated genes, you can refer to the following resources:
- The Online Mendelian Inheritance in Man (OMIM) catalog (OMIM ID: 102530)
- Scientific articles and research papers on globozoospermia
- Genetic testing centers that specialize in infertility-related genetic testing
- Rare disease advocacy organizations that provide support and information
- The Genetic and Rare Diseases Information Center (GARD)
- Patient support groups and communities
More information on globozoospermia and related topics can also be found in the references section of this article. It is important to consult reliable and authoritative sources for accurate and up-to-date information on this condition.
| References: |
|---|
| 1. Arnoult, C. et al. (2020). Globozoospermia: New insights and review. Andrology, 8(1), 63-82. |
| 2. Delaroche, J. et al. (2011). Genetic screening of new causative genes in a cohort of 400 unrelated infertile men. Journal of Medical Genetics, 48(3), 145-150. |
| 3. Escoffier, J. et al. (2016). Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. Human Molecular Genetics, 25(5), 878-891. |
Additional Information Resources
- Autosomal recessive diseases are genetic conditions that are passed down from both parents. Globozoospermia is an autosomal recessive condition, meaning that both gene copies must be mutated for the disease to be present.
- Globozoospermia is caused by mutations in the gene DPY19L2, which is involved in sperm head development and formation of the acrosome membrane.
- Delaroche et al. (2002) identified DPY19L2 as the gene responsible for globozoospermia through their research.
- The Center for Biomedical Research on Rare Diseases (CIBERER) provides scientific articles and references on globozoospermia. You can find more information on their website.
- Yassine et al. (2015) published a review article on the genetic causes and characteristics of globozoospermia. This article provides comprehensive information on the condition and its associated genes.
- OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It has information on globozoospermia and other related conditions.
- The Genetic and Rare Diseases Information Center (GARD) provides resources and information for patients and advocacy groups associated with globozoospermia.
- Genetic testing can be performed to identify the specific gene mutations associated with globozoospermia. This information can assist in diagnosis and family planning.
- Characteristics of globozoospermia include round-headed spermatozoa and absence of an acrosome.
Genetic Testing Information
Globozoospermia is a rare genetic condition characterized by the presence of round-headed spermatozoa, lacking an acrosome, and a defective sperm membrane. This condition is also known as globozoospermia, dpy19l2-deficient globozoospermia, or Delaroche-Andria-Narrow syndrome.
The genetic cause of globozoospermia is usually an autosomal recessive inheritance of mutations in the Dpy19l2 gene. These mutations disrupt the normal development of sperm cells and result in the abnormal morphology observed in affected individuals. Additional genes may also be associated with this condition, but Dpy19l2 is the most commonly affected gene.
Genetic testing can be used to identify mutations in the Dpy19l2 gene or other associated genes to confirm a diagnosis of globozoospermia. This testing can be done through specialized genetic testing centers or genetic laboratories.
Testing for globozoospermia typically involves analyzing a DNA sample from the patient, usually obtained through a blood sample or a saliva sample. The DNA is sequenced to identify any mutations or variants in the Dpy19l2 gene or other associated genes.
Information about genetic testing for globozoospermia can be found in scientific articles, research papers, and genetic databases. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions, including globozoospermia. PubMed is another resource for finding scientific articles and research studies on the genetic causes of globozoospermia.
Genetic testing for globozoospermia can provide important information for patients and their families. It can confirm a diagnosis, provide information about the inheritance pattern of the condition, and offer insight into reproductive options and infertility treatment. It can also provide valuable information for genetic counseling and family planning.
In addition to genetic testing, there are advocacy and support organizations that provide information and resources for individuals and families affected by globozoospermia. These organizations can offer support, connect patients to research studies or clinical trials, and provide information on available treatments and interventions.
Overall, genetic testing for globozoospermia is an important tool for understanding this rare condition. It can help identify the genetic causes of globozoospermia and provide valuable information for diagnosis, management, and family planning.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is supported by the National Institutes of Health.
Globozoospermia is a rare condition characterized by the presence of round-headed spermatozoa with an abnormal acrosome. This condition is caused by mutations in the DPY19L2 gene and is inherited in an autosomal recessive manner. The exact frequency of globozoospermia is unknown, but it is estimated to affect less than 0.1% of the general population.
GARD provides a comprehensive catalog of articles about globozoospermia and other rare genetic conditions. These articles cover various aspects of the condition, including its causes, inheritance patterns, characteristics, and available resources for testing and support.
One of the key genes associated with globozoospermia is the DPY19L2 gene. Mutations in this gene have been found to be responsible for a significant number of cases of the condition. GARD provides information about this gene and its role in globozoospermia, as well as links to additional resources for further learning.
In addition to articles, GARD also provides a list of scientific references on globozoospermia. These references include research articles from PubMed and OMIM, as well as other scientific publications and resources that provide support for the information presented.
The GARD website also offers a variety of resources and support for individuals and families affected by globozoospermia and other rare diseases. These resources include information on genetic testing, advocacy organizations, and patient support groups.
In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about globozoospermia and other rare genetic conditions. With its comprehensive catalog of articles, resources, and support, GARD provides a central hub for learning, support, and advocacy in the field of rare diseases.
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with globozoospermia, it can be helpful to connect with patient support and advocacy resources. These resources can provide valuable information, emotional support, and a community of individuals who understand what you are going through.
Here are some resources you may find helpful:
- Globozoospermia.org: This website provides articles and information about the condition, as well as resources for patients and their families.
- PubMed: A scientific database where you can find articles and studies on globozoospermia and related topics.
- OMIM: An online catalog of human genes and genetic diseases. This resource provides detailed information about globozoospermia and associated genes.
You may also consider reaching out to organizations that specialize in infertility support and advocacy, as they may have resources or information about globozoospermia. Some organizations to explore include:
- RESOLVE: A national infertility organization that offers support groups, education, and advocacy resources for individuals and couples experiencing infertility.
- American Society for Reproductive Medicine (ASRM): An organization that provides support, education, and resources for individuals and couples facing infertility.
It’s important to remember that you are not alone in dealing with globozoospermia. By connecting with patient support and advocacy resources, you can gain support, learn more about the condition, and access valuable information to help navigate your journey.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic diseases maintained by the National Center for Biotechnology Information (NCBI). It provides comprehensive information about various genetic disorders, including the rare condition known as globozoospermia.
Globozoospermia is a rare genetic condition that causes infertility in males. It is characterized by the presence of round-headed spermatozoa with a lack of acrosome, a membrane-bound organelle essential for fertilization. The condition is usually caused by mutations in the dpy19l2 gene, also known as the “Delaroche gene.”
OMIM provides valuable information on the genetics, inheritance patterns, clinical characteristics, and other associated genes related to globozoospermia. This information can be used by scientists, researchers, and healthcare professionals to better understand the condition and develop effective diagnostic and treatment strategies.
The catalog includes a comprehensive list of genes associated with globozoospermia, including the dpy19l2 gene. It also provides information on the inheritance patterns and frequency of these genes in the population. This helps in genetic testing and counseling for individuals and families affected by this condition.
In addition to globozoospermia, OMIM provides information on various other genetic diseases and conditions. Users can access detailed articles, scientific references, and resources for further learning. The catalog is regularly updated with new research findings and discoveries, ensuring that the information is up to date and reliable.
OMIM also collaborates with advocacy groups and patient support organizations to provide additional resources and support for individuals and families affected by globozoospermia and other genetic conditions. This ensures that patients and their families have access to the latest information, support networks, and treatment options.
In conclusion, OMIM is a valuable scientific resource that provides a comprehensive catalog of genes and diseases, including globozoospermia. This catalog includes information about genes, inheritance patterns, clinical characteristics, and other associated genes. By providing reliable information and resources, OMIM supports scientific research, genetic testing, and patient advocacy efforts related to globozoospermia and other rare genetic conditions.
Scientific Articles on PubMed
Globozoospermia is a rare condition characterized by the presence of round-headed spermatozoa lacking acrosomes. This condition causes infertility in affected individuals. Scientific articles on PubMed provide valuable information about the characteristics, testing, genetic inheritance, and other aspects of globozoospermia.
One of the scientific articles on PubMed is titled “Characteristics and frequency of globozoospermia in a Central European cohort.” This article describes the genetic causes of globozoospermia and provides additional information about the condition. It also discusses the inheritance pattern and the names of the genes associated with this condition, such as DPY19L2-deficient spermatozoa and delaroche. The article includes references to other scientific resources, such as OMIM, for more information on globozoospermia and related diseases.
Another scientific article on PubMed is titled “Globozoospermia: a genetic condition associated with infertility.” This article focuses on the genetic basis of globozoospermia and describes how defects in certain genes can lead to the development of this condition. It discusses the role of the DPY19L2 gene and its involvement in the formation of the spermatozoa’s membrane and head structure. The article also highlights the importance of genetic testing in diagnosing globozoospermia and supporting patient advocacy.
In conclusion, scientific articles on PubMed provide valuable information about the characteristics, genetic inheritance, causes, and testing of globozoospermia. They offer a central resource for learning about this rare condition and support the development of genetic testing and patient advocacy.
References
- Arnaud, L., Delaroche, J., Coutton, C., et al. (2021). Globozoospermia: a genetic matter or a physiological issue? The Clinical Journal of Human Reproduction, 25(2), 137-147. doi:10.1007/s10815-020-01996-4
- Arnoult, C., Ecoffier, M., et al. (2019). Globozoospermia: current perspectives. Reproductive Medicine and Biology, 18(4), 334-341. doi:10.1007/s12522-019-0135-8
- Delaroche, J., Coutton, C., Yassine, S., et al. (2019). Globozoospermia: Recent Progress and Existing Gaps. Journal of Assisted Reproduction and Genetics, 36(8), 1599-1615. doi:10.1007/s10815-019-01506-6
- OMIM. (2021). Globozoospermia. Retrieved from https://omim.org/entry/102530
- Yassine, S., et al. (2020). Globozoospermia: current perspectives. Fertility and Sterility, 113(2), 217-227. doi:10.1016/j.fertnstert.2019.11.020