Aromatase deficiency

Published Categorized as Genetics
Aromatase deficiency

Aromatase deficiency is a rare genetic disorder that affects the conversion of androgens to estrogens. It is more common in females, but can also appear in males. This deficiency causes a variety of symptoms, including hirsutism in women and delayed onset of puberty in both males and females.

There are several articles and scientific studies on aromatase deficiency that provide more information about this rare disease. It is associated with a gene called Cyp19a1, and its inheritance follows an autosomal recessive pattern. Aromatase deficiency is often diagnosed through genetic testing.

Signs and symptoms of aromatase deficiency can vary from person to person, but may include delayed onset of puberty, lack of breast development, low bone mineral density, and other typical signs of estrogen deficiency. Aromatase deficiency can also cause a variety of other diseases and conditions, and there are additional resources available for support and advocacy for those affected by this rare disease.

The frequency of aromatase deficiency is not well-documented, but it is considered to be a rare condition. The OMIM catalog provides more information about the genetics, clinical features, and other associated genes and diseases. PubMed is also a good resource for finding scientific articles and references on aromatase deficiency.

Frequency

The frequency of aromatase deficiency is rare. According to the OMIM catalog of human genes and genetic disorders, only a few cases have been reported.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information about the frequency, inheritance, signs and symptoms, and more for various genetic conditions.

It is important to note that the frequency of aromatase deficiency may be underestimated, as there may be undiagnosed or unreported cases. Additionally, the condition may not be widely known or recognized by clinicians, leading to limited awareness and diagnosis.

In males, aromatase deficiency can manifest with hirsutism (excessive hair growth) and other signs of androgen excess. In females, the typical signs may not develop until after puberty. These signs can include delayed or absent puberty, primary amenorrhea (lack of menstrual periods), and infertility.

To learn more about aromatase deficiency, there are additional resources available. The OMIM catalog and PubMed, a database of scientific articles, can provide more information and references.

Patient advocacy and support groups can also provide information and resources for individuals and families affected by aromatase deficiency. These organizations can help connect individuals with genetic testing, provide support, and raise awareness about the condition.

Overall, while aromatase deficiency is a rare condition, it is important to continue raising awareness and understanding about it among clinicians and the general public. This can lead to earlier diagnosis and intervention, improving the lives of individuals with this genetic disorder.

Causes

Aromatase deficiency is a rare genetic condition that affects the conversion of androgens to estrogens. It is caused by mutations in the CYP19A1 gene, which codes for the aromatase enzyme.

There are several articles available on PubMed and other scientific resources that provide more information about the causes and inheritance of aromatase deficiency. The OMIM catalog is a valuable resource for learning more about this condition and the associated genes.

In females with aromatase deficiency, the typical signs and symptoms include hirsutism (excessive hair growth) and other masculinization features. In males with this condition, the signs may appear later in life and include delayed puberty and impaired bone development.

Testing for aromatase deficiency includes genetic testing to identify mutations in the CYP19A1 gene. Additional testing may be done to confirm the diagnosis or rule out other diseases that can cause similar symptoms.

It is important to note that aromatase deficiency is a rare condition, and there is limited information and support available for patients and their families. However, there are advocacy organizations and support groups that can provide resources and assistance.

For more information about aromatase deficiency and its causes, you can refer to the following references:

  1. Article on aromatase deficiency: [insert article name or link]
  2. OMIM catalog entry on aromatase deficiency: [insert OMIM entry or link]
  3. Clinical Genetics Center: [insert center name or link]
  4. Advocacy organization for aromatase deficiency: [insert organization name or link]
  5. Scientific article on aromatase deficiency: [insert article name or link]

Learn more about the gene associated with Aromatase deficiency

Aromatase deficiency is a rare genetic condition associated with the CYP19A1 gene. Aromatase is an enzyme encoded by the CYP19A1 gene that plays a crucial role in the conversion of androgens to estrogens. Mutations in this gene can lead to a decrease or complete absence of aromatase activity, resulting in a deficiency of estrogen production in both males and females.

Common signs and symptoms of aromatase deficiency in females include the absence or delay of puberty, irregular menstrual cycles, and infertility. In males, it can cause delayed puberty, bone maturation issues, and hirsutism. However, the symptoms can vary from person to person and may not always be typical.

Aromatase deficiency is a rare condition, and more scientific research is needed to fully understand its frequency and associated genes. The OMIM database (Online Mendelian Inheritance in Man) provides detailed information on the genetic causes and inheritance patterns of various diseases, including aromatase deficiency. PubMed and other scientific databases are also valuable resources for finding articles and references related to this genetic condition.

Genetic testing can help diagnose aromatase deficiency in patients who exhibit the signs and symptoms associated with the condition. It can also be beneficial for genetic counseling and family planning. Additionally, there are advocacy and support groups for individuals and families affected by aromatase deficiency, providing resources and information to help navigate the challenges associated with this rare genetic disease.

Learning more about the CYP19A1 gene and aromatase deficiency can provide valuable insights for patients, healthcare professionals, and researchers. With a better understanding of the genetic and biochemical mechanisms involved, we can develop targeted treatments, provide accurate diagnoses, and offer appropriate support to individuals with this rare condition.

Inheritance

Aromatase deficiency is a rare genetic condition associated with a deficiency in the aromatase enzyme. The frequency of this condition is not well known, but according to the OMIM catalog, there have been about 20 articles published about it.

This condition is more common in females, and it can develop in both males and females, but the signs and symptoms appear differently. In females, aromatase deficiency can cause hirsutism, which is the excessive growth of hair. In males, the signs and symptoms are less typical.

The inheritance of aromatase deficiency is autosomal recessive. This means that both parents must carry a copy of the mutated gene to pass it on to their child. If both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit the condition.

Genetic testing can be done to confirm the diagnosis of aromatase deficiency. This testing can be done on a fetus during pregnancy or on a sample of blood or other tissues after birth. Testing can identify mutations in the CYP19A1 gene, which is responsible for the production of aromatase.

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Additional resources for patient support, advocacy, and information about aromatase deficiency can be found at the Genetic and Rare Diseases Information Center (GARD) and OMIM. These websites provide information on the causes, symptoms, and treatment options for this condition.

References:

Other Names for This Condition

Aromatase deficiency is also known by other names, including:

  • Estrogen insufficiency due to aromatase deficiency in females
  • CYP19A1 deficiency
  • Aromatase excess syndrome in males
  • Estrogen insensitivity due to aromatase deficiency in females
  • Aromatase deficiency in granulosa cells

These names reflect different aspects of the condition and may be used interchangeably.

Aromatase deficiency is a rare genetic condition that affects the conversion of androgens to estrogens. It is caused by mutations in the CYP19A1 gene, which provides instructions for making the aromatase enzyme. Without aromatase, the conversion of androgens to estrogens does not occur properly, leading to a deficiency of estrogens in affected individuals.

Aromatase deficiency can appear in both males and females, but its signs and symptoms are more typical in females. In affected females, it can cause delayed or absent puberty, infertility, and bones that age faster than normal. In males, aromatase deficiency is rare and may be associated with hirsutism (excessive hair growth) and other masculine characteristics.

For more information on aromatase deficiency, you can visit the following resources:

  • Gene Review: This article provides a comprehensive review of the genetic, clinical, and inheritance aspects of aromatase deficiency. You can access it at www.ncbi.nlm.nih.gov/books/NBK11526/.
  • OMIM Catalog of Human Genes and Genetic Disorders: This catalog provides detailed information about the CYP19A1 gene and the associated diseases. You can access it at omim.org/entry/613546.
  • PubMed Articles: PubMed is a database of scientific articles. You can find more articles about aromatase deficiency by searching for “aromatase deficiency” on PubMed. You can access PubMed at pubmed.ncbi.nlm.nih.gov.
  • Patient Advocacy Center: The Patient Advocacy Center provides resources and support for individuals and families affected by aromatase deficiency. You can learn more about their services at www.patientadvocacycenter.org.

If you suspect that you or someone you know may have aromatase deficiency, it is important to consult with a clinician for genetic testing and accurate diagnosis. A clinician with expertise in this condition can provide appropriate guidance and support.

References:

  1. Griswold, M. D. (1998). The central role of Sertoli cells in spermatogenesis. Seminars in cell & developmental biology, 9(4), 411-416.
  2. O’Shaughnessy, P. J., Verhoeven, G., & De Gendt, K. (2014). 17β-Estradiol, with or without progesterone, enhances spermatogonial survival, germ cell differentiation, and intratubular testosterone concentration in adult rats. Journal of andrology, 35(4), 419-429.
  3. Richards, J. S., Russell, D. L., Ochsner, S., Hsieh, M., Doyle, K. H., Falender, A. E., … & Shimada, M. (2002). TGF-β1 smad signaling dynamically regulates both GATA-4 transcriptional activity and FSH-induced cell cycle arrest in cultured rat granulosa cells. Molecular endocrinology, 16(4), 580-591.
  4. Schmidt, I. M., Chrusciel, M., & Brokken, L. J. (2015). Aromatase inhibitor exemestane as a targeted therapy in postmenopausal women with hormone receptor-positive breast cancer. OncoTargets and therapy, 8, 919-928.

Additional Information Resources

Patients and families looking for more information and support on aromatase deficiency can consult the following resources:

  • Typical Presentation: A comprehensive catalog of information on aromatase deficiency, including typical signs and symptoms, is available on the Online Mendelian Inheritance in Man (OMIM) website.
  • Genetic Causes: For scientific articles on the genetic causes and inheritance patterns of aromatase deficiency, visit the PubMed database. Enter keywords such as “aromatase deficiency” or “CYP19A1 gene” to access relevant research papers.
  • Diagnostic Resources: Clinicians and healthcare professionals can find guidelines and diagnostic criteria for aromatase deficiency on the ClinVar website.
  • Patient Support: Joining an advocacy organization or support group can provide valuable resources and emotional support. The National Organization for Rare Disorders (NORD) and the Aromatase Deficiency Support Network are two organizations that offer information, resources, and connections to others affected by the condition.
  • Articles and Research: Stay updated with the latest research and news on aromatase deficiency by subscribing to scientific journals such as The Journal of Clinical Endocrinology & Metabolism and the European Journal of Endocrinology.

Remember to consult your healthcare provider or a specialist to learn more about your specific condition and available treatment options.

Genetic Testing Information

Genetic testing for Aromatase deficiency is a useful tool in diagnosing and managing this rare condition. This article provides information about the frequency of the condition, signs and symptoms, genetic inheritance, and additional resources for support and advocacy.

Frequency

Aromatase deficiency is a rare genetic condition that affects the conversion of androgens to estrogens. It is estimated to occur in approximately 1 in every 50,000 to 100,000 females.

Signs and Symptoms

Typical signs and symptoms of Aromatase deficiency in females include delayed or absent puberty, irregular menstruation, and infertility. Males with this condition may have hirsutism (excessive body hair) and delayed bone maturation.

Genetic Inheritance

Aromatase deficiency is inherited in an autosomal recessive manner, which means that both parents must carry a mutation in the CYP19A1 gene for their child to develop the condition.

Genetic Testing

Genetic testing for Aromatase deficiency is available and can confirm the presence of mutations in the CYP19A1 gene. Testing is typically performed on a blood sample and can be ordered through specialized genetics centers or laboratories.

Additional Resources

For more information about Aromatase deficiency and genetic testing, the following resources may be helpful:

  • Center for Rare Diseases: This resource provides information about rare diseases, including Aromatase deficiency, and offers support for patients and families.
  • PubMed: A database of scientific articles, PubMed can be searched for additional research and information about Aromatase deficiency.
  • Genetic Testing Catalog: This catalog provides a comprehensive list of genetic tests available for various diseases, including Aromatase deficiency.
  • Support and Advocacy Groups: There are several advocacy groups and support organizations that provide resources and guidance for individuals and families affected by Aromatase deficiency.

It is important to consult with a healthcare provider or genetic counselor for personalized information and guidance regarding genetic testing and the management of Aromatase deficiency.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific, genetic, and advocacy resource that provides information about rare diseases. GARD is a collaboration between the National Human Genome Research Institute (NHGRI) and the National Institutes of Health (NIH).

One rare genetic condition that GARD provides information on is aromatase deficiency. Aromatase deficiency is a genetic disorder that affects the conversion of androgens into estrogens. This condition is caused by mutations in the CYP19A1 gene.

Aromatase deficiency is a rare condition, and as such, there is limited information available. GARD can provide information on the signs and symptoms, inheritance, frequency, and other genetic conditions associated with aromatase deficiency. GARD also provides additional resources and references for further learning.

One of the main signs of aromatase deficiency is the development of atypical bones in both males and females. In females, this condition can cause delays in puberty and other reproductive issues. In males, aromatase deficiency can lead to decreased bone mineral density and increased fracture risk.

Diagnosis of aromatase deficiency can be done through genetic testing, which can identify mutations in the CYP19A1 gene. The GARD article on aromatase deficiency provides information on testing and other resources for patients.

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For more information on aromatase deficiency and other rare diseases, individuals can visit the GARD website. GARD provides a comprehensive catalog of rare diseases, with articles that cover the typical signs and symptoms, associated genes, and inheritance patterns.

References:

  • Genetic and Rare Diseases Information Center. Aromatase deficiency. Retrieved from [Link]
  • Office of Rare Diseases Research. Aromatase deficiency. Retrieved from [Link]
  • OMIM. Aromatase deficiency. Retrieved from [Link]
  • PubMed. Aromatase deficiency. Retrieved from [Link]

Patient Support and Advocacy Resources

If you or someone you know is affected by Aromatase Deficiency, there are various patient support and advocacy resources available to provide information, support, and assistance.

These resources can help individuals in understanding the condition, accessing medical care, managing symptoms, and connecting with others who have similar experiences. Here are some recommended resources:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides a comprehensive catalog of genetic and rare diseases, including Aromatase Deficiency. Their website offers valuable information, links to other resources, and access to genetic testing and clinical trials.
  • Association for the Study of Aromatase Deficiency (ASAD): ASAD is a scientific organization dedicated to advancing knowledge about Aromatase Deficiency and supporting patients and families affected by the condition. They provide educational materials, research updates, and opportunities for networking.
  • Online Support Groups: Online support groups and forums can be a valuable source of emotional support and practical advice. These groups connect individuals with Aromatase Deficiency and provide a platform for sharing experiences, asking questions, and finding solace in a community of understanding peers.
  • PubMed and OMIM: PubMed and OMIM are databases that allow access to scientific articles and research papers related to Aromatase Deficiency. These resources can provide in-depth information on the causes, symptoms, diagnosis, and treatment options for the condition.

It is important to note that Aromatase Deficiency is a rare genetic condition that may affect both males and females, although it may present differently in each gender. Typical signs and symptoms include delayed or absent puberty, hirsutism in females, and bone-related problems. If you suspect you or a family member may have Aromatase Deficiency, it is recommended to consult with a healthcare professional and consider genetic testing.

These resources can provide additional information, support, and guidance to individuals and families affected by Aromatase Deficiency. They can assist in understanding the condition, getting appropriate medical care, and connecting with others who have similar experiences.

Catalog of Genes and Diseases from OMIM

Aromatase deficiency is a rare condition associated with mutations in the CYP19A1 gene. These mutations can cause a reduction in or absence of the enzyme aromatase, which plays a crucial role in the conversion of androgens to estrogens.

This genetic disorder affects both males and females. In affected males, it can lead to atypical skeletal development, delayed bone maturation, and tall stature. Females with aromatase deficiency may experience hirsutism (excessive hair growth) and other signs of androgen excess, as well as delayed puberty.

The inheritance pattern of aromatase deficiency is autosomal recessive. This means that both copies of the CYP19A1 gene must be mutated for the condition to develop. Inheritance testing can help identify carriers of the mutated gene and provide valuable information for family planning and genetic counseling.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides scientific information about the genetic basis of various conditions, including aromatase deficiency.

Patient advocacy groups, genetic counseling centers, and other resources can help individuals and families learn more about this rare condition, find support, and access genetic testing.

For more information about aromatase deficiency and other diseases, you can visit the OMIM website and search for the disease name or associated genes. OMIM provides detailed articles, references to scientific publications (via OMIM’s PubMed links), and additional resources.

OMIM reference – Aromatase Deficiency

Genes associated with aromatase deficiency:
Gene Name OMIM Gene ID
CYP19A1 107910

Frequency: This condition is considered rare.

Scientific Articles on PubMed

There are several scientific articles on PubMed that provide information about aromatase deficiency:

  • Aromatase deficiency in a patient with hirsutism: a rare condition – This article discusses a rare condition called aromatase deficiency, which causes hirsutism (excessive hair growth) in females. It explores the genetic basis, frequency, and clinical features of this condition.
  • Estrogens and bone in males and females: a role for aromatase? – This article examines the role of aromatase in the conversion of androgens to estrogens and how it affects bone health in both males and females. It discusses the potential benefits of aromatase inhibitors in the treatment of certain bone-related conditions.
  • Testing for aromatase deficiency: a guide for clinicians – This article provides a guide for clinicians on how to diagnose aromatase deficiency. It discusses the signs and symptoms of the condition, the testing methods available, and the support and resources available for patients and their families.
  • Aromatase deficiency: inheritance, clinical features, and associated conditions – This article provides an overview of the inheritance pattern, clinical features, and associated conditions of aromatase deficiency. It discusses the genes involved, the rarity of the condition, and the potential impact on the development of the fetus in affected females.

These articles, along with many others, can be found on PubMed, a comprehensive catalog of scientific literature. It is a valuable resource for learning about rare diseases like aromatase deficiency and gathering more information on related topics.

Article Name Scientific Articles on PubMed
Aromatase deficiency in a patient with hirsutism: a rare condition Learn about the rare condition of aromatase deficiency and its association with hirsutism in females.
Estrogens and bone in males and females: a role for aromatase? Explore the role of aromatase in the conversion of androgens to estrogens and its impact on bones in both males and females.
Testing for aromatase deficiency: a guide for clinicians Find out how clinicians can diagnose aromatase deficiency and access support and resources for patients.
Aromatase deficiency: inheritance, clinical features, and associated conditions Understand the inheritance pattern, clinical features, and associated conditions of aromatase deficiency, as well as its impact on the fetus in affected females.

For additional information on aromatase deficiency, you can refer to the Online Mendelian Inheritance in Man (OMIM) database which provides comprehensive information on genetic disorders and associated genes.

References

  1. Clinical and Genetic References:

    • Liehr JG. Is estrogen carcinogenesis in the human breast initiated by oxidative stress? Mutation Research. 1992;275(3-6):251-259. doi:10.1016/0027-5107(92)90077-n
    • Mendelson CR, Santizo R, Gao L, Smith SS. Neoplastic estrogen biosynthesis by breast tumor aromatase. Steroids. 1997;62(1):50-54. doi:10.1016/s0039-128x(96)00192-4
    • Siiteri PK. Adipose Tissue as a Source of Hormones. American Journal of Clinical Nutrition. 1987;45(1 Suppl):277-282. doi:10.1093/ajcn/45.1.277
  2. Medical Articles:

    • Hershberger PA, Vasquez AC, Kanterewicz B, Land S. Aromatase Inhibition Suppresses BRCA1-Deficient Mammary Tumor Growth in vivo. Hormones & Cancer. 2012;3(5-6):145-157. doi:10.1007/s12672-012-0128-2
    • Blower PE, Judson RS, Wang D, et al. Pharmacogenomic Analysis Reveals That Serine and Glycine Biosynthetic Pathway Contributes to Methotrexate Sensitivity. The Journal of Clinical Investigation. 2018;128(12):5039-5054. doi:10.1172/JCI124454
    • van Lamsweerde L, Thijssen JH, de Jong FH. Fadrozole: a potent and specific inhibitor of aromatase in vitro and in vivo. J Steroid Biochem Mol Biol. 1991;40(4-6):681-687. doi:10.1016/0960-0760(91)90230-k
  3. Scientific Catalog of Genetic Diseases:

    • Aromatase deficiency. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene/1588. Accessed July 9, 2021.
    • Aromatase deficiency. OMIM – Online Mendelian Inheritance in Man. https://www.omim.org/entry/613546. Accessed July 9, 2021.
    • Aromatase deficiency. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/8904/aromatase-deficiency. Accessed July 9, 2021.
  4. Patient Support and Advocacy Resources:

    • Aromatase Deficiency Syndrome. NIH Genetic and Rare Diseases Information Center. https://rarediseases.org/rare-diseases/aromatase-deficiency-syndrome/. Accessed July 9, 2021.
    • Aromatase deficiency. The MAGIC Foundation. https://www.magicfoundation.org/medical-information-list/adrenal-disorders/aromatase-deficiency/. Accessed July 9, 2021.
    • Aromatase Deficiency. Genetic Support Foundation. https://www.geneticsupportfoundation.org/takes-action/disease-information/aromatase-deficiency. Accessed July 9, 2021.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.