Fragile X-associated primary ovarian insufficiency

Fragile X-associated primary ovarian insufficiency, also known as FXPOI, is a condition that affects women and is characterized by irregular menstrual cycles and reduced fertility. It is caused by a reduced or absent production of the FMRP protein, which is essential for the normal function of the ovaries. This condition is associated with the fragile X gene, and it is thought to be inherited in an X-linked manner.

FXPOI is a relatively rare condition, affecting about 20% of women who carry the fragile X gene mutation. The frequency of FXPOI in the general population is estimated to be about 1 in 2,500 women.

Women with FXPOI may experience a range of symptoms, including irregular periods, early menopause, and fertility problems. This condition can have a significant impact on a woman’s quality of life and may require medical intervention to address the associated hormonal imbalances.

There is currently no cure for FXPOI, but there are treatments available to help manage the symptoms and improve fertility. Hormone replacement therapy and fertility treatments, such as in vitro fertilization, may be recommended to help women with FXPOI conceive.

If you or someone you know is affected by FXPOI, it is important to seek support and information from advocacy groups and genetic counseling centers. These resources can provide additional information about the condition, genetic testing, and available treatment options. Scientific studies and research articles are also valuable sources of information to learn more about FXPOI and its effects on female fertility.

Frequency

Fragile X-associated primary ovarian insufficiency (FXPOI) is a genetic condition that affects women and is caused by changes in the FMR1 gene. It is thought to be the second most common cause of primary ovarian insufficiency (POI), after Turner syndrome.

FXPOI is estimated to occur in 1 in 5,000 to 10,000 women. However, the true frequency may be higher as many women with the condition may go undiagnosed or misdiagnosed due to the variability in symptoms and the lack of awareness among healthcare providers.

The FMR1 gene provides instructions for making a protein called fragile X mental retardation protein (FMRP), which is involved in the development and function of the ovaries. Women with FXPOI have a reduced or absent production of FMRP, which leads to irregular menstrual cycles, early menopause, and reduced fertility.

Genetic testing for FXPOI can be done to confirm the diagnosis. Testing may include analyzing the number of repeats in the FMR1 gene and detecting any mutations or changes in the gene sequence. Expanded genetic testing panels that include other genes associated with POI can also be used to identify additional causes of the condition.

Support and advocacy groups, such as the Fragile X Association and the National Fragile X Foundation, provide information about FXPOI, patient resources, and support for individuals affected by the condition. They also help raise awareness and funding for scientific research.

Scientific research on FXPOI is ongoing, with studies investigating the inheritance patterns, genetic and molecular mechanisms, and potential treatments for the condition. The OMIM database, PubMed, and ClinicalTrials.gov are valuable resources for finding references, articles, and clinical trials related to FXPOI.

Causes

Fragile X-associated primary ovarian insufficiency (FXPOI) is caused by a mutation in the FMR1 gene. This gene is also associated with Fragile X syndrome (FXS), a genetic condition that causes intellectual disability and behavioral problems in affected individuals.

In normal individuals, the FMR1 gene produces a protein called fragile X mental retardation protein (FMRP), which helps regulate the function of other genes. However, in individuals with FXPOI, the FMR1 gene is mutated and does not produce enough FMRP. This reduced FMRP function leads to irregular development and function of the ovaries.

The inheritance pattern of FXPOI is X-linked, meaning that the mutated gene is located on the X chromosome. Women have two X chromosomes, while men have one X and one Y chromosome. Because of this, FXPOI is more common in women than in men. Men with the mutated FMR1 gene may also experience reduced fertility, but to a lesser extent.

Research studies have shown that other genes may also play a role in the development of FXPOI. However, the exact causes and mechanisms of this condition are still being investigated.

Testing for FXPOI can be done through genetic testing, which involves analyzing the FMR1 gene for mutations. This testing can help confirm the diagnosis of FXPOI in women with ovarian problems and can also be used for carrier testing in women with a family history of FXS or FXPOI.

Additional resources and information about FXPOI can be found on various websites and databases. The Online Mendelian Inheritance in Man (OMIM) and PubMed are popular resources for scientific articles and research studies on FXPOI. ClinicalTrials.gov can provide information on ongoing clinical trials related to FXPOI. Advocacy organizations and support groups for Fragile X syndrome may also have information and resources specific to FXPOI.

References:

  • OMIM – Fragile X-Associated Primary Ovarian Insufficiency
  • PubMed – Fragile X-Associated Primary Ovarian Insufficiency
  • ClinicalTrials.gov – Fragile X-Associated Primary Ovarian Insufficiency

Learn more about the gene associated with Fragile X-associated primary ovarian insufficiency

Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition characterized by reduced or absent ovarian function, leading to fertility problems and other associated ovarian irregularities. Research in this field has identified a specific gene that is thought to play a role in the development of FXPOI.

The gene associated with Fragile X-associated primary ovarian insufficiency is known as FMR1. This gene has been extensively studied and is known to be responsible for Fragile X syndrome, a genetic disorder that affects both males and females and can cause a range of intellectual and developmental disabilities.

While Fragile X syndrome is more commonly associated with males, with a frequency of approximately 1 in 4,000 to 5,000 males, it is also a significant cause of ovarian insufficiency in females. Studies have shown that approximately 20% of women who carry expanded FMR1 gene repeats, which is the genetic abnormality associated with Fragile X syndrome, experience ovarian insufficiency.

Understanding the genetic basis of FXPOI has important implications for patient care and further research. Genetic testing for the FMR1 gene can be helpful in diagnosing FXPOI and providing patients with information about their condition and fertility options. It can also help in identifying other genes or genetic factors that may contribute to the development of ovarian insufficiency.

For more information about the FMR1 gene, clinical trials, and research studies on Fragile X-associated primary ovarian insufficiency, there are several resources available:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic diseases, and other related topics. It includes a detailed entry on the FMR1 gene and Fragile X syndrome.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “FMR1 gene” or “Fragile X-associated primary ovarian insufficiency” will provide additional scientific literature on the topic.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials. Searching for “Fragile X-associated primary ovarian insufficiency” may yield current studies that are investigating treatment options or further understanding of the condition.

In addition to these resources, there are also advocacy and support organizations that provide valuable information and support to those affected by FXPOI. These organizations can help connect individuals with resources and provide a supportive community for those dealing with the challenges of FXPOI.

Inheritance

The inheritance pattern of Fragile X-associated primary ovarian insufficiency (FXPOI) is X-associated, which means it is caused by a change (mutation) in the FMR1 gene located on the X chromosome. This gene provides instructions for making a protein called fragile X mental retardation protein (FMRP). When this gene is mutated, it leads to a reduction or absence of FMRP, which affects the normal function of the ovaries and results in primary ovarian insufficiency.

Since the FMR1 gene is located on the X chromosome, inheritance patterns differ between males and females. Males have one X and one Y chromosome, while females have two X chromosomes. Females who inherit a mutated FMR1 gene on one of their X chromosomes may still have a normal FMR1 gene on their second X chromosome, which can compensate for the reduced or absent FMRP produced from the mutated gene. As a result, females with a mutated FMR1 gene may have a milder form of ovarian insufficiency or may not experience any symptoms at all.

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On the other hand, males have only one X chromosome, so if they inherit a mutated FMR1 gene, they do not have a second FMR1 gene to compensate. This is why males with a mutated FMR1 gene often experience more severe symptoms, such as intellectual disabilities or developmental delays, in addition to problems with fertility.

The inheritance of FXPOI can also be influenced by the number of repeat sequences (CGG repeats) in the FMR1 gene. In normal individuals, the number of CGG repeats ranges from 5 to 44. However, individuals with FXPOI typically have an expanded CGG repeat, with a size greater than 55. The size of the CGG repeat expansion can affect the severity of symptoms and the age at which symptoms appear.

For more information on the inheritance of FXPOI, you can refer to the following resources:

  • Fragile X Syndrome: OMIM Entry – This resource provides detailed information about the FMR1 gene and its association with Fragile X syndrome, including primary ovarian insufficiency. You can access this resource at www.omim.org/entry/309550.

  • Fragile X Syndrome: PubMed Articles – PubMed is a database of scientific articles. Here, you can find a collection of research studies and articles on Fragile X syndrome, including information on primary ovarian insufficiency. You can search for relevant articles at pubmed.ncbi.nlm.nih.gov/?term=Fragile+X+syndrome.

Additionally, genetic testing can be done to confirm a diagnosis of FXPOI and determine the size of CGG repeat expansion in the FMR1 gene. This testing is typically performed in individuals with symptoms suggestive of FXPOI or for carrier screening in those with a family history of Fragile X syndrome.

Individuals and families affected by Fragile X-associated primary ovarian insufficiency can also seek support and further information from advocacy organizations, such as the National Fragile X Foundation. These organizations provide free resources, support groups, and help connect individuals to ongoing research and clinical trials related to Fragile X syndrome and associated conditions.

Other Names for This Condition

  • Fragile X-associated primary ovarian insufficiency
  • Fragile X-associated premature ovarian failure
  • FXPOI
  • Primary ovarian insufficiency associated with the fragile X mental retardation 1 gene
  • POI associated with the FMR1 gene
  • X-linked primary ovarian insufficiency
  • XPOI

Fragile X-associated primary ovarian insufficiency (FXPOI) is also known by several other names. These names help patients, healthcare providers, and researchers to identify this genetic condition and learn more about it in scientific articles, clinical trials, and other resources.

This condition is primary ovarian insufficiency (POI) associated with the fragile X mental retardation 1 gene (FMR1). It is thought to be caused by a mutation in the FMR1 gene, which leads to reduced or irregular function of the gene’s protein product, FMRP. This gene is also associated with fragile X syndrome, a genetic condition that causes intellectual and developmental disabilities in males.

Women with FXPOI experience a reduced frequency of menstruation and may have irregular periods or no periods at all. This can lead to infertility and other problems with the ovaries. It is important for women experiencing these symptoms to undergo genetic testing to confirm the diagnosis of FXPOI.

Additional information about FXPOI, its causes, inheritance, and associated symptoms can be found in resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and clinicaltrials.gov. These resources provide support, research, and clinical trial information for patients and advocacy groups.

Genetic research on FXPOI aims to better understand the underlying genetic causes and develop new treatments and interventions to support women with this condition. It is important for patients and healthcare providers to stay updated on the latest research and clinical findings to provide the best care and support for individuals with FXPOI.

Additional Information Resources

Here are some additional resources where you can learn more about Fragile X-associated primary ovarian insufficiency:

  • OMIM: A catalog of human genes and genetic disorders. You can find more information about this condition, including its causes, inheritance pattern, and associated genes, on the OMIM website.

  • PubMed: A database of scientific articles. You can search PubMed for articles on Fragile X-associated primary ovarian insufficiency to learn more about its clinical features, genetic testing, and treatment options.

  • ClinicalTrials.gov: An online registry of clinical trials. This resource provides information on ongoing and completed studies related to Fragile X-associated primary ovarian insufficiency. You can find information about research studies, their objectives, and participant eligibility criteria.

  • Fragile X Research Foundation: An organization dedicated to funding research on Fragile X syndrome and related conditions. They provide information and support to individuals and families affected by Fragile X-associated primary ovarian insufficiency. You can visit their website to find more resources and connect with advocacy groups.

These resources can help you learn more about the condition, its impact on fertility and ovarian function, genetic testing options, and available support networks.

Genetic Testing Information

Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects the ovarian function in women. It is associated with Fragile X syndrome, a genetic disorder that primarily affects males. This condition is thought to be caused by the reduced function of the fragile X mental retardation protein (FMRP), which is encoded by the FMR1 gene.

Genetic testing can help identify the FMR1 gene and detect any abnormalities or mutations that may be causing FXPOI. This testing is important for women with ovarian problems, fertility issues, or irregular menstrual cycles. It can provide valuable information about the genetic inheritance patterns and potential risks associated with this condition.

There are several types of genetic testing available for FXPOI. These include expanded carrier screening, which looks for other genetic mutations that may affect ovarian function, and an analysis of the FMR1 gene itself. These tests can be performed on a blood or saliva sample and can provide more information about the frequency and inheritance of FXPOI.

Genetic testing can be useful for individuals and families affected by FXPOI. It can help them make informed decisions about family planning and reproductive options. It can also provide additional support and resources for advocacy, research, and clinical trials.

For more information about genetic testing for FXPOI, you can visit the following resources:

  • PubMed: This scientific database has articles and studies on genetic testing and FXPOI.
  • ClinicalTrials.gov: This database provides information on ongoing clinical trials related to FXPOI and genetic testing.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the FMR1 gene and its associated diseases.
  • Other online articles and references that provide information on genetic testing and FXPOI.

By learning more about genetic testing for FXPOI, individuals and families can better understand the condition and access the necessary support and resources.

Patient Support and Advocacy Resources

Patients with Fragile X-associated primary ovarian insufficiency (FXPOI) can benefit from various support and advocacy resources. These resources provide valuable information, assistance, and connections to help patients and their families navigate the challenges associated with this condition.

Here are some patient support and advocacy resources that can be useful:

  • Fragile X Association of Australia – This organization helps individuals and families affected by fragile X-associated disorders, including FXPOI. They offer support services, educational resources, and advocacy efforts. Visit their website at www.fragilex.org.au to learn more.
  • Fragile X Society – This UK-based organization provides support, information, and resources for individuals and families affected by fragile X-related conditions, including FXPOI. They can be reached at www.fragilex.org.uk.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is an online resource that provides information about various genetic and rare diseases. They have an extensive collection of articles, scientific references, and patient support information related to FXPOI. Access their FXPOI page at rarediseases.info.nih.gov/diseases/11747/fragile-x-associated-primary-ovarian-insufficiency.
  • ClinicalTrials.gov – This website provides information about ongoing clinical trials that are studying FXPOI and related conditions. Patients can explore potential opportunities to participate in these trials and contribute to research efforts. Visit www.clinicaltrials.gov to learn more.
  • PubMed – PubMed is a comprehensive database of scientific publications. Patients can search for research articles related to FXPOI and stay updated with the latest scientific advancements. Access PubMed at pubmed.ncbi.nlm.nih.gov.
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These resources offer valuable information and support for patients with FXPOI and their families. By utilizing them, patients can stay informed about the latest research, connect with others facing similar challenges, and access additional assistance and resources specific to their needs.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable insights into the understanding of Fragile X-associated primary ovarian insufficiency (FXPOI). These studies aim to explore the causes, symptoms, and potential treatments for this condition.

FXPOI is associated with an expanded CGG repeat in the FMR1 gene, which also causes Fragile X syndrome. Through genetic testing on females with irregular ovarian function, it is thought that around 20% of these women may have the FMR1 gene mutation, leading to FXPOI.

These research studies focus on identifying the frequency of FXPOI and the impact it has on a woman’s fertility and ovarian function. They also aim to learn more about the genetic inheritance patterns of this condition and the specific genes involved.

ClinicalTrialsgov provides a wealth of resources for patient advocacy groups, researchers, and healthcare providers seeking more information on FXPOI. The website offers a catalog of articles and references on the latest scientific advancements in the field. This information not only helps expand our understanding of FXPOI but also supports the development of potential treatments and interventions.

By conducting research studies on FXPOI, scientists hope to find additional genes that may be associated with this condition and further unravel the complex mechanisms that contribute to reduced ovarian function in affected women. This knowledge can lead to improved diagnostic testing, more accurate genetic counseling, and better support for women with FXPOI.

As we learn more about the genetic causes and impact of FXPOI, it is crucial to share this information with the scientific community, healthcare providers, and affected individuals. ClinicalTrialsgov serves as an important platform for disseminating study findings and promoting collaboration and innovation in FXPOI research.

In conclusion, research studies from ClinicalTrialsgov play a significant role in advancing our understanding of Fragile X-associated primary ovarian insufficiency. By exploring the genetic causes, impact on fertility, and potential treatments, these studies provide valuable insights that can ultimately improve the lives of women with this condition.

Catalog of Genes and Diseases from OMIM

Fragile X-associated primary ovarian insufficiency is a condition in which women with the fragile X-associated gene have problems with their ovaries. This condition is also known as fragile X-associated premature ovarian insufficiency or FXPOI.

The fragile X-associated gene, also called FMR1, is thought to be involved in the normal function of the ovaries. When the FMR1 gene is expanded, it can cause fragile X syndrome, a genetic condition that causes intellectual and developmental disabilities. Fragile X-associated primary ovarian insufficiency is a related condition, but it is caused by a different type of genetic change in the FMR1 gene.

The inheritance pattern of fragile X-associated primary ovarian insufficiency is not fully understood. Some studies have suggested that it is inherited in an X-linked recessive manner, which means that the condition is more common in women and is passed on by carrier mothers. However, other studies have found that the inheritance pattern is more complex.

The frequency of fragile X-associated primary ovarian insufficiency is not well known. It is thought to be a relatively rare condition, but more research is needed to determine its true prevalence.

Patients with fragile X-associated primary ovarian insufficiency may have a variety of symptoms, including irregular menstrual cycles, early menopause, and reduced fertility. Some women may also have additional health problems, such as thyroid disease or autoimmune disorders.

Scientific research into fragile X-associated primary ovarian insufficiency is ongoing. The OMIM catalog provides a wealth of information about this condition, including genetic and clinical data, scientific references, and links to related articles on PubMed and ClinicalTrials.gov.

The OMIM catalog is a valuable resource for researchers, healthcare providers, and patients seeking to learn more about fragile X-associated primary ovarian insufficiency and other genetic diseases. It helps support further research into the causes and treatment of these conditions, and provides resources for genetic testing, advocacy, and support for women and families affected by them.

For more information about fragile X-associated primary ovarian insufficiency and other related conditions, visit the OMIM catalog and explore the wealth of information available for free.

Scientific Articles on PubMed

Scientific research on Fragile X-associated primary ovarian insufficiency (FXPOI) can be found in various articles available on PubMed, a comprehensive database of scientific publications.

This condition is associated with the Fragile X mental retardation 1 (FMR1) gene. The FMR1 gene is responsible for producing a protein called fragile X mental retardation protein (FMRP).

Studies have shown that women with FXPOI have a reduced frequency of the FMR1 gene, leading to problems in the normal function of their ovaries. This can result in irregular menstrual cycles and reduced fertility.

Clinical studies and genetic testing have provided more information about the genetic causes and inheritance pattern of FXPOI. It is thought that an expanded CGG repeat in the FMR1 gene is associated with the condition.

PubMed provides a catalog of scientific articles that discuss FXPOI, its associated genes, and other related topics. These articles can be a valuable resource for patients, healthcare professionals, and researchers.

Additionally, clinicaltrialsgov, a website that lists ongoing clinical trials, provides information on clinical trials related to FXPOI. This can be helpful for individuals seeking further support and information about treatment options.

Advocacy groups and genetic resources also provide support and information about FXPOI. They can provide additional references and resources for patients and their families.

In conclusion, scientific articles on PubMed, along with other resources like clinicaltrialsgov, advocacy groups, and genetic resources, can help researchers, healthcare professionals, and patients learn more about FXPOI and its genetic causes. Research in this area helps to expand our understanding of the condition and supports the development of potential treatments and interventions for affected individuals.

References

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