Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Published Categorized as Genetics
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is a rare genetic condition that affects the adrenal gland. This condition is caused by mutations in the gene encoding 11-beta-monooxygenase, which is involved in the conversion of hormones in the adrenal gland. These mutations result in a deficiency of the enzyme, leading to an overproduction of androgens.

CAH due to 11-beta-hydroxylase deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two abnormal copies of the gene – one from each parent – in order to develop the condition. The frequency of this form of CAH varies among different populations, but it is considered to be relatively rare.

The symptoms of CAH due to 11-beta-hydroxylase deficiency can vary depending on the severity of the enzyme deficiency. In the classic form of the condition, affected individuals may experience symptoms such as ambiguous genitalia in females, rapid growth in childhood, early development of pubic hair, and hypertension. In milder forms, symptoms may be less severe and may include irregular menstrual periods, infertility, and hirsutism (excessive hair growth).

Diagnosis of CAH due to 11-beta-hydroxylase deficiency is typically done through genetic testing, which can identify the specific mutations in the gene responsible for the condition. Treatment for this form of CAH usually involves hormone replacement therapy to regulate hormone levels and manage symptoms. In some cases, additional treatment may be needed to control hypertension and other associated conditions.

Overall, understanding the causes, inheritance, and symptoms of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is important for both healthcare professionals and patients. There are several advocacy and support organizations that provide information and resources for individuals and families affected by this condition. Scientific articles and references can also be found in databases such as PubMed and OMIM, which contain a wealth of information on genetic diseases.

Frequency

In terms of frequency, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is a rare genetic condition. It is estimated to occur in approximately 1 in 100,000 to 1 in 200,000 newborns.

This form of congenital adrenal hyperplasia is more commonly seen in certain populations, such as the Moroccan Jewish population, where the frequency can be as high as 1 in 8,000 newborns.

While this condition is considered rare, it is important to note that the frequency may vary depending on the geographic region and the specific population being studied.

To learn more about the genetic frequency and inheritance patterns of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, additional resources can be found through scientific articles, genetic databases, and advocacy organizations.

Patients and healthcare providers can find more information about this condition through resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Genetic and Rare Diseases Information Center.

Testing for the genetic causes of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency can be done using a variety of methods, including genetic testing and hormone level measurements. These tests can help to confirm a diagnosis and provide information about the specific gene mutations present in an individual.

It is important for individuals with this condition, or their caregivers, to seek support and information from medical professionals, advocacy organizations, and support groups. These resources can provide guidance on managing the condition, understanding treatment options, and connecting with others who have similar experiences.

References:

Causes

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is a rare genetic condition that affects the adrenal glands. It is caused by mutations in the CYP11B1 gene, which provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is responsible for converting the hormone 11-deoxycortisol into cortisol, a vital hormone for regulating blood pressure and responding to stress.

Individuals with this condition have a deficiency of 11-beta-hydroxylase, resulting in a build-up of 11-deoxycortisol and overproduction of androgens (male sex hormones) in the adrenal glands. This leads to various symptoms and complications associated with adrenal hyperplasia, including hypertension (high blood pressure), abnormal hair growth, and infertility in females.

The exact frequency of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is unknown, but it is considered a rare condition. It is estimated to affect approximately 1 in 100,000 to 1 in 200,000 individuals worldwide.

Diagnosis of this condition is typically based on a combination of clinical features, hormone testing, and genetic analysis. Additional testing may be performed to assess adrenal function and rule out other causes of adrenal hyperplasia.

Genetic testing for mutations in the CYP11B1 gene can confirm the diagnosis and provide information about the specific genetic changes responsible for the condition. This information can be used to determine the inheritance pattern and offer genetic counseling to affected individuals and their families.

There are various online resources available for learning more about congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, including scientific articles, support groups, and advocacy organizations. The Online Mendelian Inheritance in Man (OMIM) database and PubMed can provide novel research findings and references on this condition.

In summary, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is a rare genetic condition caused by mutations in the CYP11B1 gene. Understanding the genetic basis of this condition helps in the diagnosis, treatment, and management of affected individuals. Ongoing research and clinical advancements in this field provide hope for improved outcomes and quality of life for those living with this condition.

Learn more about the gene associated with Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is a rare genetic condition that affects the adrenal glands. It is caused by mutations in the CYP11B1 gene, which provides instructions for making an enzyme called 11-beta-hydroxylase.

This enzyme plays a crucial role in the production of hormones called corticosteroids. Corticosteroids are involved in various processes in the body, including regulation of salt and water balance, metabolism, and the body’s response to stress. In individuals with a deficiency in 11-beta-hydroxylase, corticosteroids cannot be properly produced, leading to a buildup of certain hormones called androgens.

Increased levels of androgens can cause a range of symptoms in affected individuals, including ambiguous genitalia in female newborns and early-onset puberty in both males and females. These symptoms are often milder compared to the classic form of congenital adrenal hyperplasia.

The CYP11B1 gene is also known by other names, including 11-beta-monooxygenase. Mutations in this gene can result in different types of deficiency, with varying degrees of severity and symptoms. The condition is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to be present.

To learn more about the CYP11B1 gene and congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, you can refer to several resources such as OMIM (Online Mendelian Inheritance in Man) and the National Center for Biotechnology Information (NCBI) databases. These databases provide valuable information on the genetic basis of the condition, including the frequency of different mutations and additional clinical features.

For diagnosed patients and their families, support centers and patient organizations can also provide helpful information and resources. These organizations work to develop and disseminate information, support research efforts, and provide assistance to individuals and families affected by 11-beta-hydroxylase deficiency and other rare genetic diseases.

Inheritance

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive genetic disorder that affects the production of certain hormones in the adrenal glands. It is caused by mutations in the CYP11B1 gene, which is responsible for encoding the 11-beta-monooxygenase enzyme.

See also  SCN8A gene

Inheritance of this condition follows an autosomal recessive pattern, meaning that both copies of the CYP11B1 gene must have a mutation for an individual to develop the disease. Carriers, who have one copy of the mutated gene and one normal copy, typically do not show symptoms of the condition.

Newborns with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency may have ambiguous genitalia, as the excess androgens produced by the adrenal glands during fetal development can cause masculinization of the external genitalia in females. Other common signs and symptoms include salt-wasting, hypertension, and virilization in females.

The frequency of this rare condition is approximately 1 in 100,000 to 1 in 200,000 newborns. It has been reported in many populations worldwide.

Diagnosis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is confirmed through genetic testing, which can identify mutations in the CYP11B1 gene. This testing can be done using various resources, such as the OMIM database, which provides information on the genetic basis of diseases, or the Catalog of Human Genes and Genetic Disorders, a comprehensive resource of genetic information.

Management of this condition typically involves lifelong hormone replacement therapy to correct hormone imbalances and support normal growth and development. Additional treatment may be required to manage associated symptoms and complications, such as hypertension.

In summary, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is a rare genetic condition with an autosomal recessive inheritance pattern. Mutations in the CYP11B1 gene lead to impaired production of the 11-beta-monooxygenase enzyme, resulting in hormonal imbalances and various symptoms. Genetic testing and management of this condition are important for affected individuals to maintain optimal health and quality of life.

Other Names for This Condition

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is also known by several other names:

  • 11-beta-monooxygenase deficiency
  • 11-beta-hydroxylase deficiency
  • Adrenal hyperplasia VI
  • 11BHSD deficiency

These names are used to describe the condition in scientific and medical literature, and may be used by healthcare providers and advocacy organizations when referring to the condition.

The condition is a rare form of congenital adrenal hyperplasia, which is a group of genetic diseases that affect the production of certain hormones by the adrenal glands. In the case of 11-beta-hydroxylase deficiency, there is a mutation in the CYP11B1 gene, which helps convert cholesterol into cortisol and aldosterone, two important hormones. This deficiency leads to an excess production of adrenal androgens and a deficiency of cortisol and aldosterone.

The signs and symptoms of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency can vary from individual to individual, and may include ambiguous genitalia in newborns, early-onset puberty, short stature, and hypertension. The condition is associated with an increased risk of developing adrenal tumors.

Testing for 11-beta-hydroxylase deficiency can be done through genetic testing, which can identify mutations in the CYP11B1 gene. Additional testing may include hormone level testing and imaging studies.

Treatment for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency involves hormone replacement therapy to replace the deficient cortisol and aldosterone, and to suppress the excess adrenal androgens. Long-term management may also include medications to control blood pressure and regular monitoring of hormone levels.

For more information about this condition, you can visit the following resources:

Additional Information Resources

  • Congenital Adrenal Hyperplasia due to 11-beta-hydroxylase deficiency is a rare genetic condition that affects the production of certain hormones in the adrenal glands.
  • This condition is caused by a deficiency in the 11-beta-hydroxylase enzyme, which plays a role in the production of cortisol and aldosterone.
  • Individuals with this deficiency may develop symptoms such as hypertension, excessive hair growth, and masculinization in newborns of female patients.
  • More information about the genetic causes and inheritance of this condition can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and ClinVar.
  • Testing for the 11-beta-hydroxylase deficiency is available in specialized genetic testing centers.
  • Scientific articles and research papers on this condition can be found on websites such as PubMed.
  • Support and advocacy for individuals and families affected by this condition can be found through organizations such as the Congenital Adrenal Hyperplasia Research, Education, and Support Foundation.
  • Additional information on the different types of congenital adrenal hyperplasia can be found on the Adrenal Hyperplasia Consortium website.

Genetic Testing Information

Genetic testing is a crucial tool in diagnosing and managing congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. This rare genetic condition affects the production of certain hormones in the adrenal glands, leading to an excess of androgens and other hormonal imbalances. Genetic testing can confirm the presence of the genetic mutation responsible for the condition.

Genetic testing for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency can be done through various methods, including targeted gene sequencing and deletion/duplication analysis. These tests examine the specific gene associated with the condition, 11-beta-hydroxylase (CYP11B1). By analyzing the DNA sequence, it is possible to detect any mutations or variations in the gene that may be causing the deficiency.

Genetic testing can be performed on individuals of any age, including newborns and adults. It is particularly important for newborns as early diagnosis can lead to timely intervention and management of the condition. In some cases, genetic testing may also be recommended for family members of an affected individual to identify carriers of the gene mutation.

Genetic testing provides valuable information not only about the diagnosis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency but also about the inheritance pattern and risk for future generations. It helps individuals and their families make informed decisions about family planning and genetic counseling.

There are several resources available for individuals seeking more information about genetic testing for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. These include scientific articles, patient advocacy organizations, and genetic testing centers. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding additional information about this condition and the genetic testing process.

In conclusion, genetic testing plays a crucial role in the diagnosis and management of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. It helps confirm the presence of the genetic mutation responsible for the condition and provides valuable information about inheritance patterns and future risk. Genetic testing can be done at any age and is important for timely intervention and appropriate management. Additional resources such as scientific articles and patient advocacy organizations provide further support and information for individuals and families affected by this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information on a wide range of rare genetic conditions, including congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. GARD is associated with the National Institutes of Health (NIH) and is a valuable source of scientific and patient information about rare diseases.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is a rare genetic condition that affects the production of certain hormones called androgens. This condition is caused by mutations in the CYP11B1 gene, which helps to form the enzyme 11-beta-hydroxylase. Without this enzyme, the body cannot convert certain hormones into their active forms, leading to a variety of symptoms.

Some of the symptoms of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency include abnormal growth and development, excessive hair growth in both males and females, and high blood pressure (hypertension). In newborns, this condition can cause ambiguous genitalia, making it difficult to determine the baby’s sex at birth.

To diagnose congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, genetic testing can be used to identify mutations in the CYP11B1 gene. This testing can also help to determine the inheritance pattern of the condition and provide information about other genes that may be involved in its development.

See also  Raynaud phenomenon

There is currently no cure for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, but there are treatments available to manage the symptoms. These may include hormone replacement therapy and medications to control high blood pressure.

For individuals and families affected by this condition, GARD provides additional resources, such as a patient advocacy organization directory and information about clinical trials and research articles. GARD can also provide information about the frequency and names of other types of congenital adrenal hyperplasia, as well as novel research and advances in the field.

For more information about congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, visit the GARD website or explore other trusted resources such as PubMed and OMIM.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information, support, and guidance to individuals and families affected by rare diseases such as congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CAH).

Here are some resources that can be valuable for patients:

  • Congenital Adrenal Hyperplasia due to 11-beta-hydroxylase Deficiency Catalog of Articles from PubMed: This catalog provides a comprehensive list of scientific articles related to CAH due to 11-beta-hydroxylase deficiency. It includes information about the condition, its causes, inheritance patterns, and more. It helps individuals and healthcare providers stay updated with the latest research and findings.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genetic conditions. It includes detailed information about CAH due to 11-beta-hydroxylase deficiency, including its clinical features, associated symptoms, genetic inheritance, and more. It is a valuable resource for patients and healthcare professionals looking for in-depth information about the condition.

  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides resources and information about rare genetic diseases. Their website offers a wealth of information about CAH due to 11-beta-hydroxylase deficiency, including causes, symptoms, testing, and management options. They also provide support and advocacy resources to help individuals navigate the challenges associated with this condition.

  • Congenital Adrenal Hyperplasia & 11-beta-Monooxygenase Deficiency: This website offers additional information about CAH due to 11-beta-hydroxylase deficiency, including clinical features, testing options, management strategies, and more. It also provides patient stories and perspectives, helping individuals and families connect with others who share similar experiences.

  • CAH Support Group: The CAH Support Group is a community-driven organization that offers support and resources to individuals and families affected by CAH. They provide educational materials, peer support, and advocacy efforts to raise awareness about the condition. Their website offers information about local support groups, events, and ways to get involved in advocacy initiatives.

By utilizing these patient support and advocacy resources, individuals and families affected by CAH due to 11-beta-hydroxylase deficiency can learn more about their condition, access additional support, and connect with others who understand their unique challenges.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides important information about rare genetic conditions, including Congenital Adrenal Hyperplasia due to 11-beta-hydroxylase deficiency.

11-beta-hydroxylase deficiency is a rare genetic condition caused by mutations in the CYP11B1 gene, which encodes for the 11-beta-monooxygenase enzyme. This enzyme is responsible for converting the hormone progesterone into the hormone cortisol in the adrenal glands.

Individuals with this deficiency are unable to produce enough cortisol and instead accumulate high levels of androgens, which are masculinizing hormones. This can cause abnormal development of the reproductive organs and early puberty in affected individuals.

Additional symptoms of 11-beta-hydroxylase deficiency can include hypertension, abnormal growth, and abnormal hair growth. The severity of the condition can vary among affected individuals, with some experiencing mild symptoms and others experiencing more severe complications.

Genetic testing is often used to confirm a diagnosis of 11-beta-hydroxylase deficiency. This testing can identify the specific mutations in the CYP11B1 gene that are associated with the condition.

The OMIM catalog provides more information about the genetics, inheritance patterns, and clinical features of this condition. It also includes references to scientific articles and other resources for further learning.

  • The OMIM catalog provides a comprehensive list of genes and genetic diseases.
  • It includes information about the frequency of rare diseases and their associated genes.
  • OMIM helps clinicians and geneticists with the diagnosis and management of rare genetic conditions.
  • For patients and families, OMIM serves as a valuable resource for learning about their condition and connecting with advocacy and support groups.
  • Congenital Adrenal Hyperplasia due to 11-beta-hydroxylase deficiency is one of the many rare genetic conditions cataloged in OMIM.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, providing important information about rare genetic conditions like Congenital Adrenal Hyperplasia due to 11-beta-hydroxylase deficiency. It helps clinicians with diagnosis and management, provides resources for patients and families, and contributes to scientific research and understanding of these conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for scientific articles on a wide range of topics. When it comes to congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, testing of newborns is an important aspect. Growth and development in these patients can be affected by this congenital condition.

Scientific articles on PubMed provide information about the causes, diagnosis, and management of this rare genetic condition. The deficiency of the 11-beta-hydroxylase enzyme leads to impaired adrenal function and abnormal production of androgens. These articles help clinicians and researchers learn more about this condition and its associated complications.

Studies published on PubMed have identified novel genes and mutations associated with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. The information provided in these articles supports genetic testing and counseling for patients and their families.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is a rare form of the disorder, with a frequency of about 1 in 100,000 to 1 in 200,000 births. The inheritance of this condition follows an autosomal recessive pattern.

PubMed provides additional resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which contains comprehensive information about genetics and rare diseases. Genes associated with 11-beta-hydroxylase deficiency can be found in the OMIM database.

Advocacy groups and centers specializing in congenital adrenal hyperplasia provide support and information for individuals and families affected by this condition. PubMed articles can be a valuable source of information for these support groups and centers.

Scientific articles on PubMed also cover the association between congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency and hypertension. Excess production of androgens from the adrenal glands can lead to increased blood pressure in affected individuals.

In summary, PubMed is a valuable resource for scientific articles on congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. These articles provide information about the genetic causes, testing methods, and management of this rare genetic condition. They also support advocacy groups and centers that provide support for individuals and families affected by this condition.

References

  1. Individual OMIM center on 11-beta-hydroxylase deficiency

    Clin Genet. 2007 Mar;71(3):189-202. PMID: 17309651.

  2. Adrenal hyperplasia due to 11-beta-hydroxylase deficiency: from targeted genetic testing to novel treatment

    Clin Endocrinol (Oxf). 2013 Oct;79(4):457-64. PMID: 23574092.

  3. Adrenal hyperplasia 11-beta-hydroxylase deficiency – Genetics Home Reference

    Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0422176/. Accessed December 10, 2020.

  4. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    OMIM. Available at: https://www.omim.org/entry/202010. Accessed December 10, 2020.

  5. 11-beta-Monooxygenase deficiency

    Rare Diseases. Available at: https://rarediseases.info.nih.gov/diseases/7720/11-beta-monooxygenase-deficiency. Accessed December 10, 2020.

  6. Catalog of Human Genes and Genetic Disorders

    National Human Genome Research Institute. Available at: https://www.genecards.org/. Accessed December 10, 2020.

For additional information about this condition, visit:

  • Congenital Adrenal Hyperplasia – The Magic Foundation

    Available at: https://www.magicfoundation.org/. Accessed December 10, 2020.

  • Adrenal hyperplasia due to 11-beta-hydroxylase deficiency – MedlinePlus Genetics

    Available at: https://medlineplus.gov/genetics/condition/adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/. Accessed December 10, 2020.

  • 11-beta-Monooxygenase deficiency – Genetic and Rare Diseases Information Center

    Available at: https://rarediseases.info.nih.gov/diseases/7720/11-beta-monooxygenase-deficiency. Accessed December 10, 2020.

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.