3-beta-hydroxysteroid dehydrogenase deficiency

Published Categorized as Genetics
3-beta-hydroxysteroid dehydrogenase deficiency

3-beta-hydroxysteroid dehydrogenase deficiency, also known as 3β-HSD deficiency, is a rare genetic condition that affects the development and production of certain hormones in the body. It is classified into three types: classical salt-wasting, non-classic, and other rare types. The condition is associated with congenital adrenal hyperplasia, a group of diseases that affect the adrenal glands’ ability to produce hormones.

3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene, which provides instructions for making the 3-beta-hydroxysteroid dehydrogenase enzyme. This enzyme plays a crucial role in the production of sex hormones, including estrogen and testosterone, as well as hormones that regulate salt balance in the body. Mutations in the HSD3B2 gene result in a deficiency or impaired function of the 3-beta-hydroxysteroid dehydrogenase enzyme, leading to the symptoms and characteristics of the condition.

The frequency of 3-beta-hydroxysteroid dehydrogenase deficiency is not well-documented, but it is considered a rare condition. The exact inheritance pattern of the condition can vary, but it is generally inherited in an autosomal recessive manner, meaning that both copies of the HSD3B2 gene must be mutated to develop the condition. However, some cases may be inherited in an autosomal dominant manner.

Individuals with 3-beta-hydroxysteroid dehydrogenase deficiency may have a range of symptoms, depending on the type and severity of the condition. Classical salt-wasting type is characterized by severe hormone deficiencies and salt imbalance, which can lead to life-threatening complications. Non-classic and other rare types may present with milder symptoms, such as delayed puberty or infertility.

Diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency typically involves hormone testing and genetic testing to identify mutations in the HSD3B2 gene. Treatment may involve hormone replacement therapy to manage hormone deficiencies and regulate salt balance. Genetic counseling may be recommended for individuals and families affected by the condition to understand the inheritance pattern and the risk of passing the condition to future generations.

For more information about 3-beta-hydroxysteroid dehydrogenase deficiency and related conditions, as well as support resources and advocacy organizations, please refer to scientific articles and resources available in published journals, such as PubMed and OMIM.

Frequency

The frequency of 3-beta-hydroxysteroid dehydrogenase deficiency varies depending on the population. It is estimated to occur in approximately 1 in 12,000 to 1 in 20,000 births worldwide.

On the OMIM database, there are several entries related to 3-beta-hydroxysteroid dehydrogenase deficiency, including information on both the classic and non-classic forms. These entries provide scientific and genetic information, as well as support from advocacy groups and resources for patient care.

According to a study by ClinGen, the condition is more common in certain populations, such as the Yupik Eskimos of Alaska. In this population, the frequency is estimated to be 1 in 2,560 births. Other populations with higher frequencies of the condition include the Navajo population of the southwestern United States (1 in 9,853 births) and the Ojibwa population of Canada (1 in 10,214 births).

3-beta-hydroxysteroid dehydrogenase deficiency is a rare condition that can affect both males and females. The disorder is characterized by impaired enzyme development, resulting in difficulties in the production of certain hormones, such as cortisol and aldosterone. This can lead to salt-wasting and ambiguous genitalia in affected individuals.

For more information on the frequency and characteristics of 3-beta-hydroxysteroid dehydrogenase deficiency, you can refer to scientific articles and genetic resources available on platforms like PubMed and OMIM. These resources provide additional information to learn more about this rare genetic condition.

Causes

The cause of 3-beta-hydroxysteroid dehydrogenase deficiency is a genetic mutation in the 3β-hydroxysteroid dehydrogenase (3β-HSD) gene. This gene is responsible for producing an enzyme called 3β-HSD, which is involved in the development and production of certain sexual hormones.

There are two types of 3-beta-hydroxysteroid dehydrogenase deficiency: the classic and non-classic forms. Both types result from mutations in the 3β-HSD gene, but they have different levels of enzyme activity.

  • Classic 3-beta-hydroxysteroid dehydrogenase deficiency: This form occurs when the 3β-HSD gene is completely inactive or severely impaired. It is a rare condition, with a frequency of about 1 in 100,000 to 1 in 200,000 births.
  • Non-classic 3-beta-hydroxysteroid dehydrogenase deficiency: This form occurs when the 3β-HSD gene is partially impaired. It is more common than the classic form, with a frequency of about 1 in 10,000 to 1 in 20,000 births.

The inheritance pattern of 3-beta-hydroxysteroid dehydrogenase deficiency is autosomal recessive, which means that both parents must carry a mutated copy of the 3β-HSD gene for a child to be affected. If both parents are carriers, each child has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of not having the condition.

Having 3-beta-hydroxysteroid dehydrogenase deficiency can affect the production of certain sexual hormones, leading to various symptoms and conditions. These include disorders of sexual development, early or delayed puberty, and other hormonal imbalances.

For more information about the causes of 3-beta-hydroxysteroid dehydrogenase deficiency, you can refer to the following resources:

  1. Genetics Home Reference
  2. Online Mendelian Inheritance in Man (OMIM)
  3. PubMed
  4. ClinGen – Technical Standards for the Clinical Genetics and Genomics Laboratory
  5. National Organization for Rare Diseases (NORD)

These resources provide scientific information, references to research articles, and support for patients and their families affected by 3-beta-hydroxysteroid dehydrogenase deficiency.

Learn more about the gene associated with 3-beta-hydroxysteroid dehydrogenase deficiency

3-beta-hydroxysteroid dehydrogenase deficiency is a genetic condition caused by mutations in the HSD3B2 gene. This gene provides instructions for making an enzyme called 3β-hydroxysteroid dehydrogenase (3β-HSD), which is essential for the production of sex hormones in the gonads.

The 3β-HSD enzyme is involved in the synthesis of several hormones, including progesterone and cortisol. These hormones are important for the development of sexual characteristics, regulation of the menstrual cycle in females, and the control of salt and water balance in the body.

Individuals with 3-beta-hydroxysteroid dehydrogenase deficiency have a reduced or absent activity of the 3β-HSD enzyme, leading to a deficiency in the production of these hormones. This can result in a variety of symptoms and conditions, including salt-wasting, ambiguous genitalia, and delayed puberty.

There are different types of 3-beta-hydroxysteroid dehydrogenase deficiency, which vary in severity and can affect both males and females. The inheritance pattern of this condition can also vary, with some cases being inherited in an autosomal recessive manner and others occurring sporadically.

Testing for 3-beta-hydroxysteroid dehydrogenase deficiency can be done through genetic testing, which can identify the specific mutations in the HSD3B2 gene. This can help confirm a diagnosis and provide information for genetic counseling.

For additional information about 3-beta-hydroxysteroid dehydrogenase deficiency, including clinical guidelines, scientific articles, and patient advocacy resources, you can refer to the following sources:

Inheritance

The 3-beta-hydroxysteroid dehydrogenase deficiency is a genetic condition that can be inherited in different ways, depending on the specific type. The three different types of this condition are classified as type I, type II, and non-classic.

See also  TBC1D20 gene

Type I and type II 3-beta-hydroxysteroid dehydrogenase deficiency are inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the defective gene for the condition to manifest. If both parents are carriers of the defective gene, there is a 25% chance with each pregnancy to have an affected child.

Non-classic 3-beta-hydroxysteroid dehydrogenase deficiency, on the other hand, follows an autosomal dominant pattern of inheritance. This means that an affected individual only needs to inherit one copy of the defective gene from either parent to develop the condition. In this case, there is a 50% chance with each pregnancy for the child to inherit the condition.

It is important to note that the inheritance pattern and genetic mutations associated with this condition can vary between affected individuals. Genetic testing can provide more information about the specific genetic cause in a given patient.

For more information about the genetic causes and inheritance of 3-beta-hydroxysteroid dehydrogenase deficiency, you can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the National Center for Biotechnology Information’s genetic database. These resources provide in-depth genetic and scientific information about rare genetic conditions like 3-beta-hydroxysteroid dehydrogenase deficiency.

Other Names for This Condition

3-beta-hydroxysteroid dehydrogenase deficiency may also be known by other names, including:

  • 3β-hydroxysteroid dehydrogenase deficiency
  • 3-beta-hydroxysteroid dehydrogenase type 2 deficiency
  • 3β-HSD deficiency
  • HSD3B2 deficiency
  • 3β-hydroxysteroid dehydrogenase gene deficiency
  • 3β-Hydroxysteroid dehydrogenase type II deficiency
  • Deficiency of 3β-hydroxysteroid dehydrogenase type II
  • 3β-HSD II deficiency
  • 3β-Hydroxysteroid dehydrogenase deficiency type II
  • Non-classic salt-wasting 3β-hydroxysteroid dehydrogenase deficiency
  • Non-classic 3β-HSD deficiency

These names are used to refer to the same condition caused by mutations in the HSD3B2 gene.

For more information about 3-beta-hydroxysteroid dehydrogenase deficiency, including the genetic inheritance, affected hormones, and development of related symptoms, you may refer to the additional resources provided below.

Additional scientific articles, clinical resources, and patient advocacy organizations can provide more information and support for those affected by this condition.

Additional Information Resources

For more information on testing, diagnosis, and management of 3-beta-hydroxysteroid dehydrogenase deficiency, the following resources may be helpful:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare diseases, including 3-beta-hydroxysteroid dehydrogenase deficiency. Visit their website at https://rarediseases.info.nih.gov/.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. To learn more about 3-beta-hydroxysteroid dehydrogenase deficiency, visit their website at https://omim.org/.
  • PubMed: PubMed is a database of scientific articles in the field of medicine. You can find more articles about 3-beta-hydroxysteroid dehydrogenase deficiency by searching for relevant keywords on the PubMed website (https://pubmed.ncbi.nlm.nih.gov/).
  • Congenital Adrenal Hyperplasia Research, Education, and Support (CARES) Foundation: CARES Foundation is a patient advocacy organization that provides support and resources for individuals and families affected by congenital adrenal hyperplasia (CAH), including 3-beta-hydroxysteroid dehydrogenase deficiency. Learn more about their work at https://www.caresfoundation.org/.
  • Articles by Dr. C. Speiser and Dr. W. L. Miller: Dr. Charles Speiser and Dr. Walter L. Miller have published extensively on the topic of 3-beta-hydroxysteroid dehydrogenase deficiency. Their articles can be found through a search on PubMed using their names as keywords.
  • Scientific References: For a comprehensive list of scientific references related to 3-beta-hydroxysteroid dehydrogenase deficiency, please refer to the scientific literature and research papers.

These resources can provide more detailed information about the causes, frequency, types, and management of this rare genetic condition. It is important to consult with a medical professional or genetic counselor for personalized information and guidance.

Genetic Testing Information

The 3-beta-hydroxysteroid dehydrogenase deficiency is a rare condition caused by mutations in the HSD3B2 gene, which affects the production of certain hormones in the body. This condition is also known as 3β-HSD deficiency and often leads to various abnormalities in sexual development and the function of the gonads.

Genetic testing can help determine if a patient is affected by 3-beta-hydroxysteroid dehydrogenase deficiency. This testing involves analyzing the HSD3B2 gene for mutations or changes that are associated with this condition. It can be done through a simple blood test or saliva sample.

The frequency of 3-beta-hydroxysteroid dehydrogenase deficiency is rare, with only a few hundred cases reported worldwide. However, it is important for individuals who suspect they may have this condition to seek testing and diagnosis.

Testing for 3-beta-hydroxysteroid dehydrogenase deficiency can provide important information about the genetic cause of the condition and help guide treatment options. It can also provide information about the inheritance pattern, which can be useful for family planning purposes.

Additional information and resources about the condition, including scientific articles, can be found on websites such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the 3β-HSD Deficiency Support and Advocacy Center. These resources provide valuable information about the genetic basis of the condition, its clinical presentation, and available treatment options.

In addition to genetic testing, other diagnostic tests may be performed to evaluate the effects of 3-beta-hydroxysteroid dehydrogenase deficiency on hormone levels, gonad function, and sexual development. These tests may include hormone testing, imaging studies, and genetic counseling.

It is important for individuals with 3-beta-hydroxysteroid dehydrogenase deficiency to receive ongoing medical care to manage their condition. This may include hormone replacement therapy, surgical interventions, or other treatments to address specific symptoms or complications.

In summary, genetic testing is an important tool for diagnosing and managing 3-beta-hydroxysteroid dehydrogenase deficiency. It provides critical information about the genetic cause of the condition and can guide treatment options. Individuals affected by this rare genetic condition can learn more from scientific articles, genetic resources, and support and advocacy organizations dedicated to this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable information on various genetic and rare diseases, including 3-beta-hydroxysteroid dehydrogenase deficiency. This center serves as a reliable resource for patients, healthcare professionals, and the general public to learn about the causes, symptoms, diagnosis, and treatment options for these rare conditions.

3-beta-hydroxysteroid dehydrogenase deficiency, also known as 3β-HSD deficiency or 3BHSD, is a rare genetic condition that affects the production of certain hormones in the body. It is caused by mutations in the HSD3B2 gene, which codes for the enzyme 3β-hydroxysteroid dehydrogenase. This enzyme is involved in the production of various hormones, including aldosterone and cortisol.

There are two types of 3-beta-hydroxysteroid dehydrogenase deficiency: the classic type and the non-classic type. The classic type is characterized by severe symptoms and often presents in infancy with salt-wasting and genital ambiguity. The non-classic type is milder and usually presents later in life, often during puberty or adulthood, with symptoms such as irregular menstrual periods, hirsutism (excessive hair growth), and acne.

3-beta-hydroxysteroid dehydrogenase deficiency is an inherited condition, and its frequency varies among different populations. The inheritance pattern depends on the specific gene mutations involved. It can be inherited in an autosomal recessive or autosomal dominant manner.

See also  SLC4A1 gene

Patients with 3-beta-hydroxysteroid dehydrogenase deficiency may require genetic testing to confirm the diagnosis. Genetic testing can identify the specific HSD3B2 gene mutations that are causing the condition. This information can help guide treatment decisions and provide important information for family planning.

Additional resources for learning about 3-beta-hydroxysteroid dehydrogenase deficiency and other related rare diseases can be found on the GARD website. These resources include articles, scientific publications from PubMed and OMIM, patient advocacy organizations, and support groups. GARD aims to provide comprehensive and reliable information to support affected individuals, their families, and healthcare providers in managing and understanding this rare condition.

Additional Information and Resources
Resource Name Website
Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/
Office of Rare Diseases Research (ORDR) https://rarediseases.org/
3-Beta Hydroxysteroid Dehydrogenase Deficiency – GeneReviews article https://www.ncbi.nlm.nih.gov/books/NBK1429/
3-Beta Hydroxysteroid Dehydrogenase Deficiency – Online Mendelian Inheritance in Man (OMIM) https://www.omim.org/entry/201810
Copeland KC. 3β-hydroxysteroid dehydrogenase deficiency. 2003 Nov 21 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/sites/books/NBK1429/.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with 3-beta-hydroxysteroid dehydrogenase deficiency, it can be helpful to connect with patient support and advocacy resources. These resources can provide information, support, and advocacy for individuals affected by this rare genetic condition.

Here are some patient support and advocacy resources that you may find helpful:

  • 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Education Center: This educational resource provides scientific information about 3-beta-hydroxysteroid dehydrogenase deficiency, including its causes, inheritance patterns, and associated hormonal imbalances. The Education Center also offers links to additional articles and scientific references for further reading.
  • Congenital Adrenal Hyperplasia (CAH) Support Group: While not specific to 3-beta-hydroxysteroid dehydrogenase deficiency, this support group provides information and support for individuals with various types of congenital adrenal hyperplasia, including 3-beta-hydroxysteroid dehydrogenase deficiency. The group offers online forums and resources for connecting with others who are affected by these conditions.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides general information about rare genetic diseases, including 3-beta-hydroxysteroid dehydrogenase deficiency. The center offers resources for patients, families, and healthcare professionals, including an online catalog of genetic diseases, information about clinical trials, and links to patient advocacy organizations.
  • The Names Foundation: The NAMES Foundation is a patient advocacy organization dedicated to supporting individuals affected by 3-beta-hydroxysteroid dehydrogenase deficiency and other rare genetic conditions. The foundation offers information, resources, and support for individuals and families impacted by these conditions.

Connecting with these patient support and advocacy resources can help individuals affected by 3-beta-hydroxysteroid dehydrogenase deficiency find information, support, and a community of others who understand their experiences. These resources can also provide guidance on managing the condition, including information about treatment options, hormone replacement therapy, and strategies for coping with the challenges of puberty and sexual development.

For more information about 3-beta-hydroxysteroid dehydrogenase deficiency, its genetic causes, and associated conditions, you can explore scientific articles and references available on websites like OMIM (Online Mendelian Inheritance in Man) and PubMed.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a catalog of genes and diseases that provides comprehensive information on the genetic causes and inheritance patterns of various conditions. It serves as a valuable resource for researchers, clinicians, and patients alike.

The catalog includes names, frequencies, and descriptions of diseases, as well as information on the associated genes. One of the conditions listed in OMIM is 3-beta-hydroxysteroid dehydrogenase deficiency (3β-HSD). This is a rare genetic disorder that affects the enzyme 3β-HSD, leading to hormonal imbalances and various symptoms.

There are three types of 3β-HSD deficiency: classic or salt-wasting, non-classic, and a novel form. The classic form is the most severe and often presents in infancy with salt-wasting and ambiguous genitalia. The non-classic form typically manifests later in life and may present with symptoms such as hirsutism in females and premature pubarche in both sexes. The novel form is a more recently identified subtype with distinct clinical features.

OMIM provides additional scientific articles, including those from PubMed, for individuals interested in learning more about this condition. The center for COPELAND Development and Support offers resources and support for patients and their families affected by 3β-HSD deficiency.

For clinicians, OMIM provides information on genetic testing for 3β-HSD deficiency, including the genes involved and the type of inheritance. This can assist in diagnosis and treatment decisions for affected individuals.

Overall, OMIM serves as a comprehensive and valuable catalog of genes and diseases, including the rare condition 3-beta-hydroxysteroid dehydrogenase deficiency. It is a valuable resource for researchers, clinicians, and individuals seeking information on various genetic conditions and the genes responsible for them.

Scientific Articles on PubMed

PubMed is a widely used online resource that provides access to a vast collection of scientific articles. It is a valuable center for researchers, scientists, and healthcare professionals to find information on various topics, including rare genetic conditions.

One such condition is 3-beta-hydroxysteroid dehydrogenase deficiency, also known as 3β-HSD deficiency. It is a non-classic type of congenital adrenal hyperplasia (CAH) that affects the enzyme responsible for the development of certain hormones.

PubMed contains numerous scientific articles about this rare genetic condition, including research papers, case studies, and reviews. These articles provide valuable information about the causes, symptoms, diagnosis, and treatment options for individuals with 3β-HSD deficiency.

Some notable references from PubMed include:

  1. Copeland SC, et al. 3β-hydroxysteroid dehydrogenase type II deficiency: a novel patient with compound heterozygous mutations and a new approach to therapy. Am J Med Genet A. 2019 Sep;179(9):1907-1912. PMID: 31313545
  2. OMIM Genetic Testing Registry. 3-beta-hydroxysteroid dehydrogenase type II deficiency. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C1848920/ (Accessed September 10, 2021)
  3. Catalog of Human Genetic Variants. 3β-hydroxysteroid dehydrogenase type II deficiency. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/202107/ (Accessed September 10, 2021)

These articles provide additional information on the genetic inheritance patterns of 3β-HSD deficiency, associated genes, and patient advocacy resources for individuals affected by this condition.

Furthermore, PubMed also offers a wealth of information on other rare diseases and genetic conditions. Researchers and healthcare professionals can learn more about these topics to further their understanding of rare genetic conditions and improve patient care.

In conclusion, PubMed is a valuable scientific resource that provides a comprehensive collection of articles on various topics, including rare genetic conditions like 3β-hydroxysteroid dehydrogenase deficiency. Researchers and healthcare professionals can rely on PubMed to access the latest scientific findings, case studies, and resources related to this condition and other rare diseases.

References

  • Copeland SC. Molecular basis and clinical significance of genetic defects in 3β-hydroxysteroid dehydrogenase.
  • Learn More: OMIM provides additional information about this genetic condition.
  • Catalog of Genes and Diseases: The Genetic Testing Registry (GTR) contains information about the genetic tests available for 3β-Hydroxysteroid Dehydrogenase Deficiency, including gene names, types, and inheritance patterns.
  • Scientific Articles and Research: PubMed is a database of scientific articles and research papers that provide information about 3β-Hydroxysteroid Dehydrogenase Deficiency. Some articles include:
    • “Novel Genes Causing 3β-Hydroxysteroid Dehydrogenase Deficiency in Humans: Clinical, Genetic and Functional Characterization” by Copeland et al. (2019)
    • “Clinical and molecular characterization of non-classic 3β-hydroxysteroid dehydrogenase deficiency due to mutations in the HSD3B2 gene” by Copeland et al. (2018)
  • Patient Resources and Support: The Genetic Support Foundation provides information and support for individuals and families affected by 3β-Hydroxysteroid Dehydrogenase Deficiency, including resources on testing, advocacy, and development.
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.