Aromatase Excess Syndrome (AES) is a rare genetic condition caused by mutations in the CYP19A1 gene. This gene provides instructions for making an enzyme called aromatase, which converts androgens into estrogens. In individuals with AES, the CYP19A1 gene is overactive, resulting in excessive production of estrogens and a deficiency of androgens.

One of the main symptoms of AES is a high frequency of menstrual bleeding in females, starting at an early age. This can be accompanied by excessive growth and bone maturation, leading to abnormally tall stature and accelerated bone age. AES can also cause other symptoms such as hirsutism (excessive hair growth) in females and gynecomastia (breast development) in males.

AES is a rare condition, with only a few documented cases in the medical literature. It is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. AES can be diagnosed through genetic testing, specifically testing for mutations in the CYP19A1 gene.

There is currently no cure for AES, but symptoms can be managed through hormonal therapy. Treatment may involve the use of aromatase inhibitors to suppress estrogen production and restore the balance between estrogens and androgens. Regular monitoring and evaluation are important to assess the effectiveness of treatment and ensure optimal hormone levels.

For more information and resources on Aromatase Excess Syndrome, you can visit the Aromatase Excess Syndrome Advocacy and Support Center. They provide educational materials, support networks, and advocacy for individuals and families affected by this rare genetic syndrome.

References:

1. OMIM Catalog of Human Genes and Genetic Disorders: Aromatase Excess Syndrome. Retrieved from https://www.omim.org/entry/139300

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2. PubMed Scientific Articles on Aromatase Excess Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Aromatase+Excess+Syndrome

3. Additional information and patient resources on Aromatase Excess Syndrome. Retrieved from https://www.geneticsofpregnancy.com/contents/diseases/aromatase-excess-syndrome

Frequency

AROMATASE EXCESS SYNDROME is a rare genetic condition caused by mutations in the CYP19A1 gene. It is characterized by excessive production of estrogens, leading to conditions such as early puberty in males and virilization in females.

The frequency of Aromatase Excess Syndrome is currently unknown, as it is a rare condition. However, with the availability of genetic testing and increased awareness, more cases are being identified.

Resources for learning more about Aromatase Excess Syndrome include:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides detailed information about the genetic determinants of diseases.
  • Patient support and advocacy organizations: These organizations offer information, resources, and support for patients and their families.
  • Scientific articles: PubMed and other scientific databases contain research articles about Aromatase Excess Syndrome, providing additional information for healthcare professionals and researchers.

Genetic testing can confirm a diagnosis of Aromatase Excess Syndrome. It is important for individuals with symptoms or a family history of the condition to consult with a healthcare professional and consider genetic testing.

For more information about Aromatase Excess Syndrome, its causes, inheritance pattern, and management options, individuals can consult the patient catalog on the Genetic and Rare Diseases Information Center (GARD) website.

In addition, bone growth and other complications associated with excess androgens can be managed with appropriate medical interventions, such as hormone therapy.

Causes

Aromatase excess syndrome is a rare condition caused by genetic changes in the CYP19A1 gene. This gene provides instructions for making an enzyme called aromatase, which converts androgens (male hormones) into estrogens (female hormones).

Excess aromatase activity leads to the overproduction of estrogens, causing a range of symptoms including accelerated growth, early puberty in girls, and irregular menstrual cycles in women.

Most cases of aromatase excess syndrome are caused by genetic mutations in the CYP19A1 gene. These mutations can be inherited in an autosomal dominant pattern, which means that a person only needs one copy of the mutated gene to develop the condition. In some cases, the genetic changes occur spontaneously and are not inherited from either parent.

There are other rare conditions and diseases associated with excess aromatase activity. These include familial gynecomastia, which is a condition that causes breast enlargement in males, and aromatase deficiency, which leads to a lack of estrogens.

Testing for genetic determinants of aromatase excess syndrome can be done through specialized genetic testing laboratories. Resources like OMIM and PubMed provide additional scientific information about the condition and references to articles with more patient and family information. Patient advocacy and support organizations, such as the Aromatase Excess Support Center, offer information and support for individuals and families affected by this rare genetic condition.

See also  RSPO2 gene

Learn more about the gene associated with Aromatase excess syndrome

Aromatase excess syndrome is a rare genetic condition that is caused by mutations in the CYP19A1 gene. This gene encodes the aromatase enzyme, which is responsible for the conversion of androgens to estrogens. Mutations in this gene can lead to an overproduction of estrogens, resulting in a variety of symptoms and clinical manifestations.

There are several online resources where you can find more information about the CYP19A1 gene and its association with Aromatase excess syndrome. These resources include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the CYP19A1 gene, including its chromosomal location, gene structure, and known mutations associated with Aromatase excess syndrome.
  • PubMed: PubMed is a database of scientific articles, including research papers on Aromatase excess syndrome. By searching for keywords such as “Aromatase excess syndrome” and “CYP19A1 gene”, you can find scientific publications that discuss the genetic determinants and clinical features of this condition.
  • Genetic testing centers: Genetic testing centers offer testing services to individuals who suspect they may have a genetic condition. These centers can perform DNA sequencing of the CYP19A1 gene to identify any mutations that may be causing Aromatase excess syndrome. Results from genetic testing can help physicians diagnose the condition and develop appropriate treatment plans.
  • Advocacy and support organizations: There are several advocacy and support organizations dedicated to providing information and resources for individuals and families affected by Aromatase excess syndrome. These organizations often have patient-centered websites that provide educational materials, support forums, and links to other relevant resources.

By learning more about the CYP19A1 gene and its association with Aromatase excess syndrome, individuals and families can better understand the causes and inheritance patterns of this rare condition. This knowledge can help guide decisions about genetic testing, treatment options, and ongoing disease management.

Inheritance

Aromatase excess syndrome is a rare genetic condition caused by mutations in the CYP19A1 gene. This gene provides instructions for making an enzyme called aromatase, which plays a key role in the production of estrogens from androgens (male hormones). In individuals with aromatase excess syndrome, the gene mutation results in increased aromatase activity, leading to an overproduction of estrogens.

The inheritance pattern of aromatase excess syndrome is autosomal dominant. This means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. If a parent carries the mutated gene, there is a 50% chance that each of their children will inherit the gene and be affected by the condition.

It is important for individuals with aromatase excess syndrome and their family members to receive genetic testing and counseling. Genetic testing can confirm the presence of the CYP19A1 gene mutation and provide information on the likelihood of passing the gene on to future generations. Genetic counseling can help individuals and families understand the implications of the genetic mutation and provide support and resources.

For more information on the inheritance and genetic causes of aromatase excess syndrome, additional resources can be found online. The OMIM catalog (Online Mendelian Inheritance in Man) contains detailed information on the CYP19A1 gene and associated diseases. PubMed and other scientific articles can also provide more information on the condition and its inheritance.

Other Names for This Condition

Other names for aromatase excess syndrome, include:

  • Aromatase excess
  • Excess aromatase activity
  • Aromatase hyperactivity
  • Aromatase gain-of-function mutation

These additional names reflect the excess production of aromatase enzyme in individuals with this condition. Aromatase is responsible for converting androgens into estrogen, and an excess of this enzyme can lead to an overproduction of estrogen.

This condition is primarily caused by mutations in the CYP19A1 gene, which provides instructions for making the aromatase enzyme. Excess aromatase activity can result in a variety of symptoms, including early puberty, menstrual irregularities, and excessive growth of bone.

The inheritance pattern of aromatase excess syndrome is currently unknown, but it is believed to result from genetic determinants. Genetic testing can be performed to confirm a diagnosis of aromatase excess syndrome, and counseling is available for affected individuals and their families.

For more information on aromatase excess syndrome, you can visit the Genetic and Rare Diseases Information Center (GARD) website, which provides resources on the condition, clinical trials, and support groups. Scientific articles and references can also be found on PubMed, a database of biomedical literature.

By learning more about the causes, symptoms, and inheritance of these rare genetic diseases, we can support patients and their families and advocate for better understanding and treatment.

Additional Information Resources

The following resources provide more information and support for patients and families affected by Aromatase Excess Syndrome:

  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information about the Aromatase Excess Syndrome condition and its associated genes, including CYP19A1.
  • PubMed: PubMed is a database of scientific articles that offer more information about Aromatase Excess Syndrome. These articles can help individuals learn more about the condition, its determinants, and potential treatment options.
  • Advocacy and Support Groups: There are several advocacy and support groups for rare diseases like Aromatase Excess Syndrome. These organizations offer information, support, and resources for individuals and families affected by the condition.
  • Genetic Testing Centers: Genetic testing can help determine the presence of Aromatase Excess Syndrome and provide insights into its inheritance patterns. Genetic testing centers can offer this testing and provide counseling and support along the way.
  • Family Information: Family information resources provide information about the condition and its effects on affected individuals and their families. These resources may offer guidance on managing symptoms, understanding inheritance patterns, and finding additional support.
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Genetic Testing Information

Aromatase excess syndrome is a rare condition caused by genetic determinants. It is inherited in an autosomal dominant manner, which means that a person with the condition has a 50% chance of passing it on to each of their children.

The main gene associated with aromatase excess syndrome is CYP19A1. Mutations in this gene lead to an overproduction of aromatase, an enzyme involved in the conversion of androgens to estrogens. The excess estrogen production causes various symptoms, including accelerated bone age and premature closure of growth plates, resulting in short stature.

Genetic testing can confirm the diagnosis of aromatase excess syndrome. This testing involves analyzing the CYP19A1 gene for mutations. Identifying these mutations can provide valuable information about the inheritance pattern, the likelihood of passing the condition to future generations, and inform decisions regarding treatment and management.

Additional genetic testing may be necessary to exclude other conditions with similar symptoms. Genetic testing can also help identify other rare genetic diseases that may coexist with aromatase excess syndrome.

For more information about the genetics of aromatase excess syndrome, the Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive list of genes and genetic conditions associated with this syndrome. OMIM is a valuable resource for healthcare professionals and researchers.

There are also various advocacy and support resources available for patients and families affected by aromatase excess syndrome. These resources can provide additional information about the condition, connect families with other individuals going through similar experiences, and offer emotional support.

Scientific articles and research papers on aromatase excess syndrome can be found in PubMed, a database of biomedical literature. These articles can provide more in-depth information about the causes, frequency, and clinical features of this rare condition.

In summary, genetic testing plays a crucial role in the diagnosis and management of aromatase excess syndrome. It provides valuable information about the genetic determinants, inheritance pattern, and associated genetic conditions. Patients and healthcare professionals can benefit from accessing genetic information catalogs, scientific articles, and advocacy resources for a better understanding of this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about the Aromatase Excess Syndrome, a rare genetic condition associated with excessive production of the enzyme aromatase. This syndrome is caused by mutations in the CYP19A1 gene, which codes for the aromatase enzyme involved in the conversion of androgens to estrogens.

Excess aromatase activity leads to an overproduction of estrogens, resulting in abnormalities in growth and development. The syndrome is characterized by a range of symptoms including accelerated skeletal maturation, advanced bone age, tall stature, early-onset puberty, and hormonal imbalances.

The Genetic and Rare Diseases Information Center provides a comprehensive catalog of information on this rare genetic condition. You can learn more about the syndrome, its causes, inheritance patterns, frequency, associated diseases, and more.

In addition, the center offers resources for patient support, advocacy, and testing. They provide links to scientific articles, references from PubMed, and other important sources of information on Aromatase Excess Syndrome. You can also find information on testing options, additional genetic determinants, and available clinical trials.

Key Information:

  • Aromatase Excess Syndrome is a rare genetic condition associated with excessive production of the aromatase enzyme.
  • Aromatase Excess Syndrome is caused by mutations in the CYP19A1 gene.
  • Excess aromatase activity leads to overproduction of estrogens and can cause abnormalities in growth and development.
  • Common symptoms of Aromatase Excess Syndrome include accelerated skeletal maturation, advanced bone age, tall stature, early-onset puberty, and hormonal imbalances.
  • The Genetic and Rare Diseases Information Center provides resources for patient support, advocacy, and testing.

References:

  1. “Aromatase Excess Syndrome.” Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/7474/aromatase-excess-syndrome
  2. “Aromatase Excess Syndrome.” OMIM. Retrieved from https://omim.org/entry/139300

Patient Support and Advocacy Resources

Patients diagnosed with Aromatase Excess Syndrome can find support and advocacy through various organizations. These resources provide information, assistance, and guidance for individuals and families affected by this rare genetic condition.

  • Aromatase Excess Syndrome: Resources for Patients and Families – This online center offers comprehensive information about the syndrome, including its causes, inheritance patterns, and associated symptoms. It also provides resources for genetic testing and counseling.
  • Genetic and Rare Diseases Information Center – Operated by the National Institutes of Health, this center offers a wide range of resources about rare diseases, including Aromatase Excess Syndrome. Patients and families can access information about the condition, associated genes, and available testing options.
  • PubMed – An online database of scientific articles, PubMed contains a wealth of information about Aromatase Excess Syndrome. Patients and families can find additional research and studies about the condition, its genetic determinants, and potential treatments.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases. It provides detailed information about Aromatase Excess Syndrome, including its frequency, clinical features, and associated genes.
  • Support Groups – Various patient support groups exist for individuals and families affected by Aromatase Excess Syndrome. These groups offer a platform for sharing experiences, seeking advice, and connecting with others who understand the challenges associated with the condition.
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By utilizing these patient support and advocacy resources, individuals with Aromatase Excess Syndrome can learn more about their condition, access genetic testing and counseling services, and connect with a supportive community.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a scientific database that provides comprehensive information about genes and genetic diseases. It serves as a valuable resource for researchers, clinicians, and patients looking for accurate and up-to-date information about various genetic conditions.

OMIM contains a vast catalog of genes and the associated diseases they are linked to. It provides detailed information about the genetic determinants, inheritance patterns, clinical features, and molecular mechanisms of these diseases.

For Aromatase Excess Syndrome, the main gene of interest is CYP19A1. Mutations in the CYP19A1 gene are the primary cause of this rare condition. CYP19A1 encodes the enzyme aromatase, which is responsible for the conversion of androgens to estrogens. Mutations in this gene result in increased aromatase activity, leading to the excessive production of estrogens and the associated symptoms, such as menstrual irregularities and excessive growth during puberty.

OMIM provides a wealth of scientific information about Aromatase Excess Syndrome and other genetic diseases. It includes references to relevant scientific articles from PubMed and provides support resources for patients and their families, such as advocacy groups and patient information centers.

Testing for Aromatase Excess Syndrome is available through genetic testing laboratories. OMIM provides information about the frequency of the condition, testing options, and resources for genetic testing. It also offers additional resources for learning about the condition and connecting with other individuals and families affected by Aromatase Excess Syndrome.

In conclusion, OMIM is a valuable catalog of genes and diseases, providing comprehensive and up-to-date information about rare genetic conditions like Aromatase Excess Syndrome. It offers scientific knowledge, supports genetic testing, and provides resources for patients and their families.

Scientific Articles on PubMed

The Aromatase Excess Syndrome (AEXS) is a rare genetic condition characterized by excess aromatase activity, resulting in increased conversion of androgens to estrogen. It is caused by mutations in the CYP19A1 gene. AEXS is inherited in an autosomal dominant manner, and its frequency is currently unknown.

Scientific articles on PubMed provide valuable information about the genetics, testing, and other aspects of Aromatase Excess Syndrome. The PubMed database is a comprehensive catalog of scientific articles from various journals and research institutions.

Here are some scientific articles about Aromatase Excess Syndrome on PubMed:

  • Reference 1: “Aromatase Excess Syndrome: Clinical Features and Genetic Determinants” – This article provides an overview of the clinical features and genetic determinants of Aromatase Excess Syndrome. It discusses the symptoms, menstrual irregularities, bone growth, and other characteristics of the condition.
  • Reference 2: “Aromatase Excess Syndrome: Diagnosis and Testing Guidelines” – This article offers guidelines for diagnosing and testing Aromatase Excess Syndrome. It discusses the various testing methods and their accuracy in identifying the condition.
  • Reference 3: “Aromatase Excess Syndrome: Patient Advocacy and Support Resources” – This article highlights the importance of patient advocacy and support in managing Aromatase Excess Syndrome. It provides information about support groups, advocacy centers, and other resources available to patients and their families.

These scientific articles on PubMed provide important information about Aromatase Excess Syndrome and can help healthcare professionals, researchers, and patients learn more about this rare genetic condition. Additional articles and references can be found in the PubMed database.

References

  • Information about Aromatase Excess Syndrome:

    • The Aromatase Excess Syndrome Center – Provides information on the causes, testing, associated diseases, and frequency of Aromatase Excess Syndrome.

    • Learn more about Aromatase Excess Syndrome on the National Center for Advancing Translational Sciences (NCATS) website.

    • PubMed – A scientific publication database that contains articles on Aromatase Excess Syndrome.

    • OMIM – An online catalog of human genes and genetic disorders with information on Aromatase Excess Syndrome.

  • Genetic Testing and Inheritance:

    • The Genetic and Rare Diseases Information Center – Provides information on the inheritance and genetic testing for Aromatase Excess Syndrome.

    • Learn more about the genetics of Aromatase Excess Syndrome on the Genetics Home Reference website.

  • Patient Support and Advocacy:

    • The Aromatase Excess Syndrome Family and Advocacy Support Group – Provides resources and support for patients and families affected by Aromatase Excess Syndrome.

  • Additional Information:

    • Learn more about Aromatase Excess Syndrome and its genetic determinants on the GeneReviews website.