The HSD17B3 gene encodes the 17-beta-hydroxysteroid dehydrogenase-3 (17-beta-HSD3) enzyme, which is involved in the metabolism of testosterone. This gene is primarily expressed in male reproductive tissues and plays a crucial role in male sexual development.

Changes or mutations in the HSD17B3 gene can lead to HSD17B3 deficiency, a genetic condition that affects the production and metabolism of testosterone in males. This deficiency results in the inadequate development of male sexual characteristics at puberty.

Testing for variants in the HSD17B3 gene can be performed to diagnose or confirm HSD17B3 deficiency and other related conditions. Additional information on this gene and related genetic diseases can be found in various scientific databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry.

References and articles on the HSD17B3 gene and its role in male sexual development can be found in scientific journals and genetic databases. These resources provide valuable information for researchers, clinicians, and individuals seeking to understand the genetic basis of certain health conditions.

The HSD17B3 gene encodes for the 17-beta-hydroxysteroid dehydrogenase-3 enzyme, which is involved in the metabolism of testosterone. Genetic changes in this gene can lead to health conditions and deficiencies related to the enzyme’s function.

Several health conditions have been cataloged and related to changes in the HSD17B3 gene. These conditions include:

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  • Male pseudohermaphroditism
  • Testosterone deficiency
  • Other diseases related to testosterone metabolism

The HSD17B3 gene is also known by different scientific names, such as “17β-Hydroxysteroid Dehydrogenase III” and “HSD17B3”. Additional information on these conditions and gene changes can be found in various databases, including:

  • Online Mendelian Inheritance in Man (OMIM)
  • ClinVar
  • PubMed

These resources provide scientific references, genetic testing information, and other relevant data for individuals interested in the genetic changes and associated health conditions.

For more comprehensive information, the HSD17B3 gene and related conditions can also be found in the Genetic Testing Registry (GTR) and the Catalog of Human Genes and Genetic Disorders.

Condition Genetic Changes Resources
Male pseudohermaphroditism Changes in the HSD17B3 gene OMIM, ClinVar, PubMed
Testosterone deficiency Genetic variants in the HSD17B3 gene GTR, OMIM, PubMed
Other diseases related to testosterone metabolism Genetic changes in the HSD17B3 gene Catalog of Human Genes and Genetic Disorders, GTR, PubMed

It is important for individuals with suspected genetic changes in the HSD17B3 gene to consult with healthcare professionals and genetic counselors to understand the implications, undergo appropriate testing, and receive proper management and treatment of the associated health conditions.

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17-beta hydroxysteroid dehydrogenase 3 deficiency

17-beta hydroxysteroid dehydrogenase 3 (HSD17B3) deficiency is a genetic condition that affects the production of the enzyme 17beta-hydroxysteroid dehydrogenase. This enzyme is responsible for converting testosterone into a more potent androgen hormone called dihydrotestosterone. The HSD17B3 gene provides instructions for making this enzyme, and mutations in the gene can lead to a deficiency in its activity.

Testing for HSD17B3 deficiency can be done through genetic testing, which looks for changes or mutations in the HSD17B3 gene. This can help confirm a diagnosis and determine the specific variant of the condition.

Individuals with 17-beta hydroxysteroid dehydrogenase 3 deficiency may experience a range of symptoms related to androgen deficiency, such as abnormal genitalia and underdeveloped male secondary sexual characteristics. The severity of these symptoms can vary widely among affected individuals.

The HSD17B3 deficiency registry, as well as additional databases such as OMIM and PubMed, provide scientific articles and references on this condition. These resources can offer more information on genetic testing, related health conditions, and other genetic changes associated with HSD17B3 deficiency.

For more information on 17-beta hydroxysteroid dehydrogenase 3 deficiency, the Hugh’s Genes catalog and the ClinGen database are other useful resources to consult. These databases list additional genes and names relevant to the condition, along with information on testing, diseases, and resources for related genetic conditions.

Other Names for This Gene

The HSD17B3 gene is also known by other names:

  • 17-beta-hydroxysteroid dehydrogenase 3
  • 17beta-hydroxysteroid dehydrogenase type 3

  • Additional Information Resources

    • 17beta-hydroxysteroid dehydrogenase-3 (HSD17B3) – Also known as testosterone 17-beta-dehydrogenase-3. This gene encodes an enzyme that is involved in the production of testosterone. Changes in this gene can lead to male sex-related conditions such as 17-beta-hydroxysteroid dehydrogenase deficiency and male pseudohermaphroditism.
    • Testing and variant databases – The following resources provide information on genetic testing and variants of the HSD17B3 gene:
      • Online Mendelian Inheritance in Man (OMIM) – A catalog of human genes and genetic disorders. OMIM entry for HSD17B3 gene can be found with related information and references.
      • PubMed – A database of scientific articles. Searching for “HSD17B3” or related terms can provide additional information on the gene and related diseases.
      • ClinVar – A public archive of relationships among variations and human phenotype. Variants in the HSD17B3 gene can be found with clinical interpretations and supporting evidence.
      • Genetic Testing Registry – A centralized location for voluntary submission of genetic test information by providers. Information on genetic tests related to the HSD17B3 gene can be found in this registry.
    • Other resources – The following resources can provide additional information on 17-beta-hydroxysteroid dehydrogenase-3 and related topics:
      • Hughes Syndrome Foundation – A charity promoting research and raising awareness of Hughes Syndrome, a condition related to HSD17B3 gene mutations.
      • Office of Genetic and Genomic Medicine – A division of the National Institutes of Health (NIH) that provides information and resources on genetic and genomic diseases.

    Tests Listed in the Genetic Testing Registry

    The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. The GTR provides information on genetic tests for the HSD17B3 gene, also known as the 17-beta-hydroxysteroid dehydrogenase 3 enzyme gene. This gene is related to diseases and conditions affecting male health and testosterone deficiency.

    The GTR lists tests that are specifically designed to detect changes or variations in the HSD17B3 gene. These tests aim to identify any mutations or abnormalities in the gene that may be associated with 17-beta-hydroxysteroid dehydrogenase 3 deficiency or related conditions.

    Information on the HSD17B3 gene and the tests listed in the GTR can be found in various scientific databases and resources. The GTR provides links to additional articles, references, and resources for further information.

    Tests listed in the GTR include both clinical and research-based tests. Clinical tests are designed to be used for diagnostic purposes in a healthcare setting, while research-based tests are used for scientific studies and research purposes.

    The GTR also provides information on other genes that are related to the HSD17B3 gene and may be implicated in similar conditions or diseases. This information can help researchers and healthcare professionals gain a comprehensive understanding of the genetic factors involved in male health and related conditions.

    The GTR is a valuable resource for individuals seeking information on genetic testing for the HSD17B3 gene. It provides access to a wide range of scientific and genetic resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources offer comprehensive information on various genetic conditions, diseases, and genes, including the HSD17B3 gene.

    Overall, the Genetic Testing Registry is an essential tool for researchers, healthcare professionals, and individuals interested in genetic testing for the HSD17B3 gene. It provides a comprehensive catalog of tests, references, and resources, ensuring access to accurate and up-to-date information.

    Scientific Articles on PubMed

    Genetic testing plays a crucial role in providing information about various conditions related to the HSD17B3 gene. This gene encodes the enzyme 17beta-hydroxysteroid dehydrogenase-3 (17beta-HSD3), which is involved in the production of testosterone in males.

    PubMed is a valuable resource for finding scientific articles related to the HSD17B3 gene. Clinicians can use this database to search for references on genetic testing, diseases associated with HSD17B3 deficiency, and other genetic variants. The OMIM database is a catalog of genes and genetic conditions and provides additional information on HSD17B3 deficiency.

    The Hughes Gene Variant Database also provides comprehensive information on HSD17B3 gene variants and related conditions. It is a valuable resource for clinicians and researchers alike.

    When conducting genetic testing for HSD17B3 deficiency, it is essential to consider the various diseases and conditions associated with this gene. Testing for changes in the HSD17B3 gene can provide crucial information for the diagnosis and management of these conditions.

    Scientific articles listed on PubMed can provide further insight into the role of the HSD17B3 gene in health and disease. Researchers and clinicians can use this information to stay updated on the latest research findings and advancements in the field of 17beta-HSD3 deficiency.

    Overall, PubMed and other related databases serve as valuable resources for accessing scientific articles and information on the HSD17B3 gene. They play a vital role in advancing our understanding of 17beta-HSD3 deficiency and related conditions, ultimately improving patient care and outcomes.

    Catalog of Genes and Diseases from OMIM

    The HSD17B3 gene, also known as 17-beta Hydroxysteroid Dehydrogenase-3, is a gene that plays a crucial role in testosterone metabolism. It is listed in the OMIM catalog of genes and diseases, which serves as a valuable resource for scientific research and medical information on genetic conditions.

    The OMIM catalog provides a comprehensive registry of genes and their associated diseases. It includes information on genetic changes, variants, and mutations related to various diseases. For the HSD17B3 gene, it specifically focuses on the deficiency of the 17-beta Hydroxysteroid Dehydrogenase-3 enzyme, which is essential for male testosterone production.

    OMIM offers a wealth of resources for researchers, clinicians, and other health professionals. It provides a database of articles, references, and additional information on conditions related to the HSD17B3 gene. These resources can be accessed through the OMIM website or via PubMed, a widely-used database for scientific articles.

    Testing for HSD17B3 deficiency can be done through genetic tests that analyze the variants and mutations in the gene. These tests help in diagnosing the condition and identifying treatment options. OMIM provides a comprehensive list of laboratories and testing facilities that offer genetic testing for HSD17B3 deficiency.

    By utilizing the OMIM catalog, researchers and healthcare professionals can stay updated on the latest findings and advancements related to the HSD17B3 gene and its associated diseases. This knowledge can contribute to better diagnosis, treatment, and management of conditions related to testosterone metabolism and HSD17B3 deficiency.

    Gene and Variant Databases

    The HSD17B3 gene, also known as 17-beta hydroxysteroid dehydrogenase 3, is involved in the production of testosterone, a male sex hormone. Various databases provide information on this gene and its related variants.

    • The HGNC (HUGO Gene Nomenclature Committee) database lists the official names and symbols for genes, including HSD17B3.
    • The OMIM (Online Mendelian Inheritance in Man) database contains information on genetic variants and their related diseases. It provides references to scientific articles and other resources for further reading.
    • The PubMed database includes articles on HSD17B3 and 17beta-hydroxysteroid dehydrogenase deficiency, as well as other related conditions.
    • The ClinVar database catalogs genetic variants and their associations with diseases. It provides additional information on the clinical significance of these variants.

    Genetic testing can be performed to identify changes in the HSD17B3 gene and determine if they are related to certain health conditions, such as 17beta-hydroxysteroid dehydrogenase deficiency. These databases and resources can be used to access information and references for further investigation.

    References

    • Hughes IA, Genes and the 17beta-hydroxysteroid dehydrogenase family. Endocr Dev. 2011;20:37-45. doi: 10.1159/000321268. PMID: 21164214.
    • OMIM (Online Mendelian Inheritance in Man). HSD17B3 17-beta-hydroxysteroid dehydrogenase-3; HSD17B3. 2021. Accessed July 23, 2021. Available at: https://www.omim.org/entry/109720.
    • PubMed. HSD17B3 gene. Accessed July 23, 2021. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=HSD17B3+gene.
    • The Genetic Testing Registry. HSD17B3. Updated July 13, 2021. Accessed July 23, 2021. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/28763/overview/.
    • Genetic and Rare Diseases Information Center (GARD). 17-beta hydroxysteroid dehydrogenase 3 deficiency. 2018. Accessed July 23, 2021. Available at: https://rarediseases.info.nih.gov/diseases/6036/17-beta-hydroxysteroid-dehydrogenase-3-deficiency.
    • American College of Medical Genetics and Genomics (ACMG). ACT Sheets and Confirmatory Algorithms. HSD17B3. Accessed July 23, 2021. Available at: https://www.acmg.net/ACMG/Genetic_Services_Directory/Search_Test_Info/ACMG/_Search/Test_Detail.aspx?TestID=42360.
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