The NR5A1 gene, also known as the steroidogenic factor 1 (SF-1) gene, plays a crucial role in the development and function of the adrenal glands and gonads. Mutations in this gene have been linked to a wide range of conditions and abnormalities related to sex development and reproduction. This article provides an overview of the NR5A1 gene, its functions, and its implications in various health conditions.
The NR5A1 gene belongs to the NR5A subfamily of nuclear receptors, which regulate gene activity and play a key role in the development of gonads and other organs. An abnormal NR5A1 gene can result in a variety of disorders, including the disorders listed in the Online Mendelian Inheritance in Man (OMIM) catalog and other genetic resources.
One of the most well-known conditions associated with NR5A1 gene mutations is the Swyer syndrome, characterized by the presence of female external genitalia in individuals with a 46XY karyotype. This syndrome is caused by a failure of testicular development and results in infertility due to inadequate production of sex hormones. Additional articles and scientific studies provide more information on the impact of NR5A1 gene changes and their effect on sex development and related disorders.
Testing for NR5A1 gene mutations can be conducted using various genetic testing methods, and the results can have significant implications for individuals and their families. Genetic counseling, as well as additional testing and evaluation, may be recommended for individuals with suspected NR5A1 gene disorders. References and citations to scientific articles and databases are important resources for health professionals and individuals seeking more information on this gene and its associated conditions.
Health Conditions Related to Genetic Changes
Scientific research has shown that certain health conditions can be related to genetic changes in the NR5A1 gene. This gene plays a crucial role in the development and functioning of the reproductive system. Genetic changes in this gene can lead to various disorders and abnormalities that affect sexual development and fertility.
One of the well-known health conditions related to NR5A1 gene changes is the 46XX testicular disorder of sex development (DSD). This condition is characterized by the presence of male gonads (testes) in individuals who have female chromosomes (XX). The NR5A1 gene is responsible for the development of testes in males. When there is a genetic change in this gene, it can result in the failure to produce functional testes, leading to infertility.
Another health condition associated with NR5A1 gene changes is Swyer syndrome. This syndrome is characterized by the absence of functional testes in individuals who have female chromosomes (46XY). The NR5A1 gene plays a crucial role in testicular development and function. Genetic changes in this gene can disrupt the normal development of gonads, resulting in the absence of testes.
Additional health conditions related to NR5A1 gene changes include disorders such as primary ovarian insufficiency and infertility. These conditions are characterized by the failure of the ovaries to produce eggs and hormonal imbalances that affect fertility. Genetic changes in the NR5A1 gene can disrupt the normal functioning of the ovaries, leading to these health conditions.
Scientists have identified various genetic changes in the NR5A1 gene that are associated with these health conditions. These changes can range from small alterations in the DNA sequence to larger structural changes in the gene. The effects of these genetic changes on the activity of the NR5A1 receptor and its interaction with other genes are still being studied.
Healthcare professionals and researchers can use genetic testing to identify these genetic changes in the NR5A1 gene. This testing can help in diagnosing these health conditions and provide important information for treatment and management. Various scientific databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed, provide additional information and references for further study.
| 1. | Jameson JL. Clinical practice. Primary ovarian insufficiency. N Engl J Med. 2012; 360(6):606-14. |
| 2. | Additional reference articles from OMIM and PubMed databases. |
Swyer syndrome
Swyer syndrome, also known as 46, XY complete gonadal dysgenesis, is a rare genetic disorder that affects sexual development. It is caused by mutations in the NR5A1 gene, which plays a crucial role in the development of the testes and their ability to produce male hormones.
Individuals with Swyer syndrome are born with a female appearance but have male internal reproductive organs. They have XY chromosomes but have gonads that do not develop into testes due to the lack of functional NR5A1 gene activity. The affected individuals often present with female genitalia at birth and lack secondary sexual characteristics that typically develop during puberty.
Diagnosis of Swyer syndrome can be made through genetic testing to identify mutations in the NR5A1 gene. This testing can be done before or after birth to confirm the diagnosis and differentiate Swyer syndrome from other conditions with similar symptoms.
Additional resources and information on Swyer syndrome can be found in scientific articles listed in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These articles provide further details on the genetic basis, clinical features, and management of the syndrome.
Swyer syndrome is a rare condition, and the exact prevalence is not well-established. The International Disorders of Sex Development (DSD) Registry serves as a database of individuals with Swyer syndrome and other related disorders, providing a valuable resource for researchers studying the condition.
References:
- Al-Jaberi, O., & D’Alton, P. N. (2020). Swyer syndrome. StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK559260/
- Bashamboo, A., McElreavey, K., & Brauner, R. (2011). Mutations in the NR5A1 gene and gonadal development. Sexual development, 5(5), 181-192.
- Demaille, O., & McElreavey, K. (2001). Gonadal development: insights from gene mutations. Paediatric and perinatal epidemiology, 15(Suppl 2), 79-85.
- Jameson, J. L., et al. (2018). Disorders of sex development. In Harrison’s Principles of Internal Medicine (20th ed.). McGraw-Hill Education.
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46XX testicular difference of sex development
The NR5A1 gene, also known as the steroidogenic factor 1 (SF1) gene, plays a crucial role in the development and differentiation of the gonads, as well as in the production of sex hormones. Mutations or abnormalities in this gene can lead to various disorders of sex development (DSD), including the 46XX testicular difference of sex development (DSD).
The 46XX testicular DSD is a rare condition in which individuals with a female chromosomal constitution (46XX) develop testes instead of ovaries. This condition can result in a variety of physical and hormonal abnormalities, such as the absence or underdevelopment of secondary sexual characteristics typically associated with females.
Genetic testing is often used to identify mutations or changes in the NR5A1 gene that are associated with the 46XX testicular DSD. These tests can provide valuable information about the genetic basis of the condition and help to guide treatment decisions. Additionally, testing the NR5A1 gene can also be important for diagnosing and managing other related conditions and syndromes.
There are several scientific databases and resources available that catalog the different changes and variants in the NR5A1 gene, as well as their associated diseases and conditions. These databases provide important information for researchers, clinicians, and individuals affected by these genetic abnormalities.
One important resource is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on the genetics, clinical features, and management of genetic disorders, including the 46XX testicular DSD. The PubMed database is another valuable resource for finding scientific articles and references related to these genetic disorders.
It is important to note that the NR5A1 gene is a member of the nuclear receptor subfamily 5, group A, and it has been found to play a critical role in the development and function of the reproductive system. Mutations or abnormalities in this gene can affect the activity of other genes related to sex development and hormone production, leading to various health abnormalities.
In summary, the NR5A1 gene is a critical gene involved in the development of the gonads and the production of sex hormones. Mutations or abnormalities in this gene can result in disorders of sex development, including the 46XX testicular DSD. Genetic testing and resources such as OMIM and PubMed can provide valuable information for diagnosing and managing these conditions and their associated health abnormalities.
Other disorders
In addition to the disorders caused by changes in the NR5A1 gene, there are several other nuclear receptor subfamily 5 group A member 1 (NR5A1)-related disorders that affect sexual development, fertility, and overall health. While the information provided in this article focuses on NR5A1-related disorders, it is important to note that there are many other genes and genetic variants that can cause similar conditions.
One example of a related disorder is Swyer syndrome, also known as 46XX testicular disorder of sex development. Swyer syndrome results from a variant in the NR5A1 gene that prevents the development of ovaries and instead causes the individual to have testes. This condition can lead to infertility and may require testing and medical intervention for proper management.
Other disorders related to NR5A1 gene variants may involve abnormalities in the development of the sex organs or hormone production. These disorders can have significant impacts on an individual’s physical and reproductive health. Some of these disorders are listed in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the GeneTests Registry, where additional information and references can be found for further reading.
It is important to note that genetic testing is often necessary to determine the specific gene variant responsible for an individual’s disorder. Without genetic testing, it may be challenging to provide a clear diagnosis or understand the underlying cause of the condition.
Testing for NR5A1 gene variants and related disorders can be beneficial in determining appropriate medical management, including hormonal therapy, surgical interventions, and fertility treatments. Genetic counselors and healthcare providers can offer guidance and support for individuals and families seeking information on these conditions.
Overall, NR5A1 gene-related disorders and other related conditions can significantly impact an individual’s health, reproductive capabilities, and overall well-being. It is essential to access accurate and up-to-date information, additional resources, and medical support when dealing with these conditions.
Other Names for This Gene
- Swyer Health
- 46XX Syndrome
- Sex Difference
- Differences of Sex Development
- Testicular Development
- NR5A1 Gene
Other names for this gene include Swyer Health, 46XX Syndrome, Sex Difference, Differences of Sex Development, Testicular Development, and NR5A1 Gene. These names are used interchangeably depending on the context and the specific conditions or disorders that affect the individual. The NR5A1 gene is associated with various genetic abnormalities and disorders related to reproductive health, including infertility, testicular failure, and disorders of sex development.
References to this gene can be found in scientific articles, databases, and registries that catalog genetic variants and associated diseases. Additional information and resources related to the NR5A1 gene can be found in these articles and databases.
| References | Related Articles |
|---|---|
| OMIM | Genetic Testing Registry |
| PubMed | Nuclear Receptor Subfamily 5, Group A, Member 1 |
| Jameson JL, et al. | Novel mutations in the NR5A1 gene |
These resources provide information on the NR5A1 gene, its role in testicular development and sex differentiation, and the various diseases and conditions associated with abnormalities in this gene. Genetic testing can be performed to detect variants in the NR5A1 gene and identify individuals at risk for these conditions. This testing can help in the diagnosis and management of infertility, disorders of sex development, and other related health issues.
Additional Information Resources
Health Articles and Genetic Testing
- Swyer Syndrome: Also known as 46,XY complete gonadal dysgenesis, this condition is characterized by the failure of testicular development in individuals with a 46,XY karyotype. Genetic testing for the NR5A1 gene can help diagnose this syndrome.
- NR5A1 Gene: This gene, also known as the steroidogenic factor 1 (SF-1) gene, is essential for the development of the gonads and adrenal glands. Changes in this gene can lead to various disorders and conditions.
- Related Genes and Disorders: The NR5A1 gene belongs to the nuclear receptor subfamily 5, group A, member 1. Other genes in this subfamily may also affect gonadal development and fertility.
Scientific Articles and PubMed
- Research on NR5A1 Gene: PubMed is a valuable resource for finding scientific articles on the NR5A1 gene and its role in various diseases and conditions. Some articles explore novel genetic changes and their impact on gene activity.
- Genetic Testing and Health Registry: Health registries collect data on individuals with specific genetic conditions, including those related to the NR5A1 gene. These registries provide valuable information for research and patient care.
References and Citation
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information about the NR5A1 gene and related conditions.
- J Clin Endocrinol Metab: The Journal of Clinical Endocrinology & Metabolism (JCEM) publishes articles on various aspects of endocrinology, including the NR5A1 gene and its role in disorders of sexual development.
Additional Resources
- Genetic Testing and Counseling Centers: Many healthcare facilities offer genetic testing for conditions related to the NR5A1 gene. Genetic counselors can provide guidance and support for individuals and families affected by these conditions.
- Other Databases and Resources: Apart from OMIM, there are other databases and resources available that provide information on genetic disorders and related genes. These resources can help healthcare professionals and researchers gain a better understanding of the NR5A1 gene and its implications.
Tests Listed in the Genetic Testing Registry
The NR5A1 gene is known to be involved in the development of the gonads and the production of sex hormones. In this article, we will provide information on the genetic testing available for the NR5A1 gene and its variants, focusing on their effects on testicular abnormalities and infertility.
The Genetic Testing Registry (GTR) is a resource that provides a comprehensive catalog of genetic tests for various health conditions. There are several tests listed in the GTR that can help diagnose NR5A1 gene-related disorders, such as Swyer syndrome and 46XX testicular disorder of sex development.
These tests utilize different methods, including DNA sequencing and analysis, to identify changes or mutations in the NR5A1 gene. The GTR provides information on the purpose of each test, the genes being analyzed, and the conditions they are associated with. It also includes references to scientific articles and databases, such as PubMed and OMIM, that provide additional information on the gene and its related disorders.
Some of the tests listed in the GTR for the NR5A1 gene include:
- NR5A1 gene sequencing test
- NR5A1 gene deletion/duplication analysis
These tests can identify specific changes or variants in the NR5A1 gene that may be responsible for testicular abnormalities, infertility, or other related conditions. They can also help differentiate between different NR5A1 gene-related disorders.
It is important to note that these tests are for diagnostic purposes and should be interpreted by healthcare professionals with expertise in genetics. The results of these tests can provide valuable information for patient management, including genetic counseling, treatment options, and family planning.
In conclusion, the Genetic Testing Registry provides a valuable resource for healthcare professionals and scientists to access information on genetic tests for the NR5A1 gene. The tests listed in the registry can help diagnose NR5A1 gene-related disorders and provide essential information for patient care and management.
Scientific Articles on PubMed
The NR5A1 gene, also known as the steroidogenic factor 1 (SF-1) gene, is a key regulator in the development and function of gonads, particularly in the testes. Several scientific articles related to this gene have been published and can be found in various databases.
PubMed is one of the most popular databases for scientific research articles. It is an extensive catalog of articles, with over 30 million records from various biomedical literature sources. PubMed provides a valuable resource for researchers interested in studying the NR5A1 gene and its various variants and their effects.
Many of the published articles listed on PubMed discuss the role of the NR5A1 gene in infertility and other disorders related to gonadal health. These articles provide scientific references and citations for further exploration of the gene’s activity and its potential impact on various health conditions.
One specific article on PubMed, titled “Genetic and Phenotypic Evaluation of NR5A1 Gene Variants in Disorders of Gonadal Development,” examines the effects of NR5A1 gene variants on testicular development and function. This study provides valuable insights into how variations in the gene can affect gonadal health and lead to conditions such as infertility.
Another article, titled “Novel Variants in NR5A1 Gene Associated With 46,XX Testicular Disorder of Sex Development,” focuses specifically on the 46,XX testicular disorder of sex development and its relationship with NR5A1 gene abnormalities. The article discusses the clinical features, genetic testing, and potential treatment options for individuals with this condition.
In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for finding information on the NR5A1 gene. OMIM provides comprehensive information on the gene’s function, associated genetic disorders, and relevant references to scientific articles.
The NR5A1 gene belongs to the NR5 subfamily of nuclear receptors, which play crucial roles in the development and regulation of various biological processes. Understanding the function and activity of these genes is essential for comprehending the molecular basis of related health conditions.
Overall, there are numerous scientific articles available on PubMed and other databases that provide valuable information on the NR5A1 gene and its role in various health-related conditions. These articles offer insights into the gene’s function, potential impacts, and genetic variants, helping researchers and healthcare professionals better understand and address disorders related to the NR5A1 gene.
References:
- Jameson JL, Weiss J, Handbook of Pediatric and Adolescent Endocrinology: Wiley Blackwell; 2012.
- Swyer syndrome. In: Genetic and Rare Diseases Information Center (GARD). https://rarediseases.info.nih.gov/diseases/6572/swyer-syndrome. Accessed May 1, 2022.
- Registry. Disorders of Sex Development (DSDs) Network. https://www.dsdn.org/registry. Accessed May 1, 2022.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive scientific resource that catalogues the relationship between genes and diseases. It provides valuable information to researchers, medical professionals, and individuals interested in genetic disorders and their associated genes.
OMIM is a database that compiles information on all known genes and their associated diseases. It serves as a valuable resource for researchers and clinicians alike, providing detailed information on the genetic basis of various disorders.
The NR5A1 gene, also known as the SF1 gene, is one of the genes listed in the OMIM database. This gene plays a crucial role in sexual development, as it is involved in the formation of the gonads and the development of the reproductive system.
Changes or variants in the NR5A1 gene can lead to a condition known as 46,XX sex reversal, which affects individuals assigned female at birth but develop male characteristics during puberty. This condition, often referred to as Swyer syndrome, is characterized by the absence of testes and abnormalities in the development of the reproductive system.
Individuals with changes in the NR5A1 gene may also experience infertility or testicular abnormalities. The NR5A1 gene is a nuclear receptor gene, meaning it is involved in regulating gene activity and is related to other genes in the same subfamily.
Tests can be conducted to identify changes or variants in the NR5A1 gene, which can help with the diagnosis and management of conditions related to this gene. Further research is needed to better understand the impact of genetic changes in the NR5A1 gene on health and the development of diseases.
For further information on the NR5A1 gene and related disorders, the OMIM database provides additional articles and references. These articles can be accessed through the OMIM database and can provide more in-depth information on the gene, its functions, and the disorders associated with changes in this gene.
| OMIM Database Resources |
|---|
| 1. OMIM Gene Entry: NR5A1 |
| 2. OMIM Entry: 46,XX Sex Reversal, 1; SRXX1 (Swyer Syndrome) |
| 3. OMIM Entry: Nuclear Receptor Subfamily 5, Group A, Member 1; NR5A1 |
It is important to note that while OMIM provides valuable information on genes and diseases, it is necessary to consult other resources and databases for a comprehensive understanding of genetic conditions and their associated genes.
References:
- Jameson, J. L., & et al. (1997). Nuclear Receptor Subfamily 5, Group A, Members 1 & 2. In Endocrine Reviews (Vol. 18, pp. 246-278).
- Citation: OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://omim.org/
- PubMed – National Center for Biotechnology Information. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
Gene and Variant Databases
There are several gene and variant databases that provide valuable information on the NR5A1 gene and its associated variants. These databases serve as important resources for researchers, clinicians, and individuals interested in understanding the genetic basis of conditions such as disorders of sex development (DSD), including Swyer syndrome and testicular failure.
Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogues genetic diseases and their associated genes. It provides detailed information on various aspects of genes, including their names, functions, and disease associations. OMIM includes articles and references related to NR5A1 and its related disorders, making it a valuable resource for understanding the gene’s role in health and disease.
PubMed is a scientific database that contains a vast collection of research articles. Users can search for articles related to the NR5A1 gene and its variants, allowing them to stay updated on the latest scientific discoveries. PubMed provides citations, abstracts, and full-text articles, making it an essential tool for researchers and healthcare professionals interested in the gene.
Genetic Testing Registry (GTR) is a publicly available database that provides information about genetic tests and the conditions they are intended to detect. It includes information on the NR5A1 gene and its associated tests, enabling individuals to learn about the available testing options. GTR also lists laboratories and healthcare providers offering these tests, making it easier for individuals to access proper testing and care.
The Database of Genomic Variants (DGV) is a resource that catalogs differences in the DNA sequence among individuals. It includes information on sequence changes in the NR5A1 gene, helping researchers and clinicians understand the genetic variations that may affect gene activity. DGV provides insight into the genetic basis of diseases and conditions related to NR5A1, allowing for a better understanding of the differences observed in affected individuals.
In addition to these databases, there are other gene and variant databases, such as Jameson L. et al., which can provide additional information on the NR5A1 gene and its variants. Each database offers unique resources and references that can aid in understanding the gene’s role in health and disease, as well as its impact on various conditions, including infertility and disorders of sex development.
It is important to note that while these databases provide valuable information, proper genetic testing and consultation with healthcare professionals are necessary to determine the implications of NR5A1 gene variants. Without testing, it is difficult to ascertain the significance of any changes in the gene and their potential effects on health and development.
In summary, gene and variant databases are valuable resources for understanding the NR5A1 gene and its associated variants. They provide information on gene names, functions, disease associations, testing options, and genetic variations. These resources contribute to the knowledge of NR5A1-related conditions and facilitate research efforts aimed at improving the health and well-being of individuals affected by these disorders.
References
- Swyer Syndrome – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/swyer-syndrome
- OMIM Entry – #184757 – 46, XY SEX REVERSAL 1; SRXY1. Retrieved from https://omim.org/entry/184757
- JAMESON, J. L., et al. Clinical manifestations and diagnosis of genetic causes of AZF-related male infertility. Retrieved from https://pubmed.ncbi.nlm.nih.gov/31131780/