The AMH gene, or Anti-Müllerian hormone gene, is a critical gene involved in the development of the reproductive system. It plays a crucial role in the differentiation of the male and female gonads and the development of male reproductive organs, such as the testes.

AMH gene mutations can lead to various conditions and syndromes. One of the most well-known conditions is persistent Müllerian duct syndrome, which is characterized by the presence of Müllerian duct structures that typically regress in males. The AMH gene is responsible for inhibiting the development of these ducts in males. Mutations in the AMH gene can result in the persistent presence of these ducts.

Scientific research on the AMH gene and related conditions has been extensively documented and studied. Many articles can be found on online scientific databases such as PubMed, where researchers and medical professionals can access information about genetic changes, genetic testing, and other related topics.

The AMH gene is listed in various genetic databases and resources such as the Online Mendelian Inheritance in Man (OMIM) database, where information about various genetic disorders and variants can be found. This information can be used by healthcare professionals and researchers in understanding the impact of AMH gene mutations on human health.

In addition to scientific articles and databases, there are also online resources available for individuals seeking more information about AMH gene mutations and related conditions. These resources may include genetic testing companies, medical registries, and support groups. They can provide additional information, references, and testing options for individuals interested in learning more about their genetic health and potential AMH gene mutations.

The AMH gene is responsible for encoding the Anti-Müllerian Hormone (AMH), which plays a crucial role in sexual development. Mutations or changes in this gene can lead to a variety of health conditions affecting both males and females.

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AMH-related genetic changes in males:

  • Persistent Müllerian duct syndrome (PMDS): This condition is characterized by the presence of female reproductive structures in males due to the incomplete regression of Müllerian ducts during fetal development. Testing for mutations in the AMH gene can help diagnose PMDS.
  • Receptor gene mutations: Changes in the AMH receptor gene can result in impaired AMH signaling, leading to disorders of sexual development in males such as disorders of sex development (DSD) and bilateral cryptorchidism.

AMH-related genetic changes in females:

  • AMH gene mutations: Variants in the AMH gene can cause a decrease or complete absence of AMH production, leading to disorders such as primary amenorrhea and ovarian cysts.
  • Other health conditions: Genetic changes in the AMH gene may also be associated with other conditions affecting female reproductive health, although their exact relationship is still being studied.

Testing for genetic changes in the AMH gene can be done through various DNA tests. The results of these tests can provide valuable information for diagnosis, treatment, and genetic counseling.

Resources for more information on health conditions related to genetic changes in the AMH gene:

It is important to consult with healthcare professionals and genetic experts for thorough evaluation and interpretation of genetic testing results in the context of individual health conditions.

Persistent Müllerian duct syndrome

Persistent Müllerian duct syndrome (PMDS), also known as persistent Müllerian duct anomaly, is a rare genetic condition that affects males. It is caused by mutations in the AMH gene, which encodes the anti-Müllerian hormone receptor.

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The Müllerian ducts are embryonic structures that develop into the female reproductive organs, including the fallopian tubes, uterus, and upper part of the vagina. In males, these ducts normally regress during fetal development under the influence of the anti-Müllerian hormone.

However, in individuals with PMDS, the Müllerian ducts persist and do not regress completely, leading to the presence of female reproductive organs in addition to the male reproductive organs. The exact genetic changes that cause PMDS are not well understood, but mutations in the AMH gene have been identified as a major factor.

PMDS is usually diagnosed during childhood or adolescence. It can be detected through imaging tests such as ultrasound or magnetic resonance imaging (MRI). The presence of persistent Müllerian ducts can be confirmed by visualizing the uterus, fallopian tubes, or upper part of the vagina in males.

Individuals with PMDS may also exhibit other symptoms related to the persistence of Müllerian ducts, such as cryptorchidism (undescended testes) or inguinal hernia. In some cases, PMDS may be associated with other genetic conditions or syndromes.

There is no cure for PMDS, but the condition can be managed with appropriate medical interventions. Treatment options may include surgical removal of the Müllerian structures, hormone therapy, or both. The specific approach depends on the individual’s symptoms and reproductive goals.

For additional information on PMDS and related conditions, you can refer to the scientific literature and various genetic databases and resources. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable sources of scientific references and articles.

In conclusion, persistent Müllerian duct syndrome is a genetic disorder characterized by the presence of Müllerian structures in males. Mutations in the AMH gene are a known cause of this condition. Diagnosis can be made through imaging tests, and treatment options are available to manage the symptoms. For more information, consult reputable scientific resources and genetic databases.

Other Names for This Gene

  • AMH gene mutations
  • Picard syndrome
  • Müllerian-in-duct regression syndrome
  • Müllerian duct regression, male
  • Müllerian duct, persistence of, with male pseudohermaphroditism
  • Müllerian duct, persistence of, with transverse vaginal septum
  • Müllerian duct, persistence of, with cervicothoracic somite dysplasia
  • Müllerian duct, persistence of, with mesomelia and hernia
  • Müllerian duct, persistence of, with renal aplasia
  • Müllerian duct syndrome
  • Müllerian duct structural defect, male
  • Genetic variant of the AMH receptor gene
  • Persistent Müllerian duct syndrome
  • Persistent Müllerian duct syndrome in males

Additional information about the AMH gene can be found in various scientific resources, including health databases, genetic testing resources, and research articles. These resources may provide information on related genes, genetic changes, conditions, and diseases that are listed as associated with the AMH gene. Testing for mutations in the AMH gene can be done through specialized genetic tests, which can be ordered by healthcare professionals. PubMed, a comprehensive database of scientific articles, can be used to find additional references and articles on the AMH gene, its functions, and related conditions. The Online Mendelian Inheritance in Man (OMIM) database also provides information on the AMH gene and related disorders. The Genetic and Rare Diseases Information Center (GARD) provides resources and information on a variety of genetic conditions, including those related to the AMH gene.

Additional Information Resources

Here are some additional resources that provide information on the AMH gene and related topics:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. The AMH gene and related conditions can be found in the OMIM database.
  • PubMed: PubMed is a database of scientific articles related to medical research. It can be used to find articles on AMH gene mutations, genetic testing, and other related topics.
  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for AMH gene mutations and related conditions.
  • Health Conditions: Websites like the National Institutes of Health (NIH) provide detailed information on various health conditions, including those related to the AMH gene.
  • Scientific Articles: There are many scientific articles that have been published on the AMH gene and its role in reproductive health. These articles can provide detailed information on the topic.
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It is important to consult these resources and seek professional medical advice for accurate information on the AMH gene and related conditions.

Tests Listed in the Genetic Testing Registry

The AMH gene is associated with various conditions and diseases related to mullerian duct and testes development. The Genetic Testing Registry (GTR) lists several tests that can be performed to analyze mutations and changes in this gene.

These tests are designed to provide information about the presence of specific variants in the AMH gene that may be associated with health conditions. The GTR catalog includes tests for genetic diseases such as Persistent Mullerian Duct Syndrome and Testicular Regression Syndrome.

Through testing, healthcare professionals can identify individuals who may be at risk for these conditions by analyzing changes in the AMH gene. The GTR provides references to scientific resources, such as PubMed, where additional information on these genetic variants can be found.

Males may also undergo testing for the AMH gene to assess their risk for conditions related to mullerian duct and testes development. This can help in identifying potential fertility issues or other health concerns that may be associated with mutations in this gene.

Additional tests listed in the GTR may analyze other genes or receptors that are related to the AMH gene and its functions. These tests aim to provide a comprehensive understanding of the genetic factors involved in mullerian duct and testes development.

The GTR serves as a valuable resource for healthcare professionals, providing a catalog of tests related to the AMH gene and its associated conditions. The registry offers up-to-date information on available tests, their purposes, and the corresponding laboratories that offer them.

Tests listed in the GTR for the AMH gene:
Test Name Test Purpose References
Persistent Mullerian Duct Syndrome To identify mutations or changes in the AMH gene that may be associated with this condition PubMed
Testicular Regression Syndrome To assess the presence of AMH gene mutations related to this syndrome PubMed
Other mullerian duct and testes-related conditions To analyze the AMH gene in relation to various other diseases and disorders PubMed

It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate test for each individual and to understand the implications of the test results.

Scientific Articles on PubMed

Testing and conditions related to AMH gene in males are listed in scientific articles on PubMed. These articles mention the persistent Müllerian duct syndrome and provide references to additional resources of information about genetic changes and mutations in the AMH gene.

One of the resources mentioned is OMIM, which stands for Online Mendelian Inheritance in Man. OMIM is a catalog of human genes and genetic disorders and provides detailed information about the AMH gene and related diseases.

PubMed is a database of scientific articles that cover various aspects of the AMH gene, including its role in the development of the Müllerian ducts and other organs in males. These articles discuss the testing methods and health implications of genetic changes in the AMH gene, such as mutations and receptor variant.

Scientists, researchers, and healthcare professionals can access these articles on PubMed to learn more about the AMH gene and its significance in male reproductive health. They can also use the information from these articles to diagnose and manage conditions related to the AMH gene, such as persistent Müllerian duct syndrome and other genetic disorders.

Additional Resources
Resource Description
OMIM Catalog of genes and genetic disorders
PubMed Database of scientific articles

By exploring the articles on PubMed and utilizing the additional resources, researchers and healthcare professionals can stay updated with the latest findings and advancements in the field of AMH gene research.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers and clinicians looking for information on genetic conditions and the genes associated with them. OMIM collects information from various sources, including scientific articles, databases, and the OMIM registry.

One example of a gene listed on OMIM is the AMH gene. This gene is involved in the development of male reproductive organs and the regression of müllerian ducts in males. Changes or mutations in the AMH gene can result in disorders such as Persistent Müllerian Duct Syndrome, which is characterized by the presence of müllerian duct structures in males.

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OMIM provides additional information on related genes and conditions. For example, the AMH receptor gene, also known as AMHR2, is another gene listed in the catalog that is associated with disorders affecting the müllerian ducts and testes.

OMIM allows users to access references to articles and pubmed links for further reading and scientific research. It also provides genetic testing information and resources for geneticists and clinicians interested in testing for mutations in specific genes or diseases.

The catalog format of OMIM makes it easy to navigate and search for specific genes or diseases of interest. The information provided is up-to-date and reliable, making it a valuable tool for researchers, clinicians, and individuals interested in genetic conditions.

In conclusion, OMIM is a comprehensive catalog of genes and diseases that provides a wealth of information on genetic conditions, including the AMH gene and related disorders. Its database and registry make it a valuable resource for the scientific community and those interested in genetic testing and research.

Gene and Variant Databases

When it comes to researching the AMH gene and its related variants, there are several databases and resources available that provide valuable information. These databases contain a wealth of scientific and genetic data that can help researchers and health professionals in understanding the gene and its role in various conditions and diseases.

  • Pubmed: Pubmed is a widely used and authoritative database of scientific articles and publications. It covers a wide range of topics, including genetic research related to the AMH gene. Researchers can find a vast amount of information here on genetic changes, mutations, and other related topics.
  • OMIM: OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the AMH gene, as well as other genes related to müllerian duct and persistence of müllerian organs. OMIM is an excellent resource for those looking for genetic information on these conditions.
  • GeneTests: GeneTests is a genetic testing and information resource that provides information on various genetic conditions. It offers a directory of genetic testing laboratories and clinics that offer testing for AMH gene mutations and other related conditions. Health professionals can use this database to find testing options for their patients.
  • Picard: Picard is a database specifically dedicated to the AMH gene. It provides an extensive list of AMH gene variants, along with information on their clinical significance. Researchers can find valuable information here on the specific changes and mutations in the AMH gene.

In addition to these databases, there are also other resources available that can provide further information on the AMH gene and its variants. These include genetic registries, which collect data on individuals with specific genetic conditions, and other scientific publications related to the gene. It is important for researchers and health professionals to utilize these resources to stay up-to-date with the latest findings and advancements in AMH gene research.

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