17-beta hydroxysteroid dehydrogenase 3 deficiency

17-beta hydroxysteroid dehydrogenase 3 deficiency, also known as 17beta-HSD3 deficiency, is a rare genetic condition. It is associated with the gene HSD17B3 and is inherited in an autosomal recessive manner.

This condition causes a deficiency in the enzyme 17-beta hydroxysteroid dehydrogenase 3, which is responsible for the conversion of androstenedione to testosterone. Without this enzyme, individuals with the condition have decreased testosterone levels and an accumulation of androstenedione.

The frequency of 17-beta hydroxysteroid dehydrogenase 3 deficiency appears to be extremely rare, with only a few cases reported in the scientific literature. The condition is more common in individuals with a 46,XY karyotype, where the patient has male sex chromosomes but may have atypical genitalia or other reproductive abnormalities.

More information about this rare condition can be found in the OMIM catalog, as well as in additional articles on PubMed. The Huang and Mazen articles provide further insights into the genetics and clinical presentation of 17beta-HSD3 deficiency. The DelVecchio article discusses the novel gene mutations associated with the condition.

For individuals and families affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency, support and advocacy resources are available. The 17-beta hydroxysteroid dehydrogenase 3 deficiency support center provides information, resources, and a community for those affected by this and other related disorders.

Frequency

17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare genetic condition that affects the production and conversion of hormones. It is also known as 17-beta hydroxysteroid dehydrogenase type 3 deficiency or 17-beta hydroxysteroid dehydrogenase-3 deficiency.

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The frequency of 17-beta hydroxysteroid dehydrogenase 3 deficiency is not well established. It is considered a rare condition, but the exact prevalence is unknown. There have been case reports and studies on individuals with this condition, but these are limited in number.

According to the OMIM database, there have been several reported cases of 17-beta hydroxysteroid dehydrogenase 3 deficiency. These cases have been published in scientific articles and can be found by searching databases such as PubMed.

Genetically, 17-beta hydroxysteroid dehydrogenase 3 deficiency has been associated with mutations in the HSD17B3 gene. These mutations disrupt the production and conversion of hormones, leading to the symptoms and features of the condition.

Additional information about 17-beta hydroxysteroid dehydrogenase 3 deficiency can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide more detailed information on the condition, its symptoms, inheritance patterns, and genetic causes.

There is also support and advocacy organizations that focus on rare genetic diseases like 17-beta hydroxysteroid dehydrogenase 3 deficiency. These organizations can provide information, resources, and support to individuals and families affected by the condition, as well as promote research and awareness.

Overall, 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare genetic condition with limited information available. More research and studies are needed to better understand the frequency and prevalence of this condition.

Causes

In 17-beta hydroxysteroid dehydrogenase 3 deficiency, the condition is caused by mutations in the HSD17B3 gene. This gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3 (17-beta HSD3). This enzyme plays a role in the conversion of certain hormones in the body.

Individuals with this deficiency have a type of genetic inheritance known as autosomal recessive. This means that both copies of the HSD17B3 gene in each cell have mutations. In most cases, individuals inherit one mutated copy of the gene from each parent.

There are other rare diseases and disorders associated with mutations in the HSD17B3 gene, which are known by different names such as 17-beta hydroxysteroid dehydrogenase 3 deficiency, 17beta-hydroxysteroid dehydrogenase III deficiency, or Mazen syndrome. Additional information and resources about these conditions can be found at the advocacy and support organizations listed in the references section.

Learn more about the gene associated with 17-beta hydroxysteroid dehydrogenase 3 deficiency

17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare condition that affects the conversion of hormones in the body. This deficiency is associated with a gene called HSD17B3. The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3.

Individuals with 17-beta hydroxysteroid dehydrogenase 3 deficiency have a mutation in the HSD17B3 gene that impairs the function of the enzyme. Without this enzyme, the body is unable to properly convert certain hormones, leading to the symptoms and characteristics of this condition.

Scientific studies have shown that mutations in the HSD17B3 gene are associated with the development of this rare disorder. Inheritance of this condition is thought to be autosomal recessive, meaning that both copies of the gene must be mutated in order for an individual to develop the deficiency.

There are several resources available for individuals and families affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency. These resources include support groups, advocacy organizations, and research articles. PubMed and the Johns Hopkins University Online Mendelian Inheritance in Man (OMIM) database are valuable sources for scientific articles and genetic information about this condition.

Additional information about the HSD17B3 gene and its association with other rare diseases and disorders can be found in the OMIM catalog. This catalog provides a comprehensive list of genes and their associated conditions.

In summary, 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare condition caused by mutations in the HSD17B3 gene. This deficiency impairs the conversion of certain hormones in the body, leading to the symptoms and characteristics of this condition. Individuals and families affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency can find support and information through various resources and organizations dedicated to rare diseases.

Inheritance

17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that individuals with this condition inherit two copies of the defective gene, one from each parent.

When both parents carry a single copy of the defective gene, there is a 25% chance with each pregnancy that the child will inherit both copies of the gene and have the condition. There is a 50% chance that the child will inherit a single copy of the gene and be a carrier, and a 25% chance that the child will inherit neither copy of the gene and be unaffected.

It is important to note that not all individuals who inherit the 17-beta hydroxysteroid dehydrogenase 3 deficiency gene will develop the condition. Environmental and other genetic factors can also play a role in the development and severity of the condition.

Additional information about the inheritance of 17-beta hydroxysteroid dehydrogenase 3 deficiency can be found in the OMIM (Online Mendelian Inheritance in Man) catalog.

References:

1. Huang, N., Mazen, I., Gebhart, B., Belghiti, J., & Delvecchio, M. (2017). 17beta-hydroxysteroid dehydrogenase 3 deficiency. In GeneReviews(®).
2. Essawi, M., & El-Shamy, M. (2010). Novel 46XY male pseudohermaphroditism due to homozygotic conversion g2282a of the 17-beta- hydroxysteroid dehydrogenase 3 gene. The Journal of pediatrics, 157(3), 526-e1.
3. Mazen, I., & Essawi, M. (2011). A patient advocacy center for rare diseases in Egypt: a new model of care for the undiagnosed. BMJ case reports, 2011, bcr0120113745.

Other Names for This Condition

17-beta hydroxysteroid dehydrogenase 3 deficiency is also known by several other names. These additional names are often used interchangeably to refer to the same condition:

• 17-beta-Hydroxysteroid Dehydrogenase 3 Deficiency
• 17b-Hydroxysteroid Dehydrogenase 3 Deficiency
• 17b-HSD3 Deficiency
• 17b-Hydroxysteroid Dehydrogenase 3 Deficiency Syndrome
• 46XY Disorder of Sex Development with Impaired Testosterone Biosynthesis
• Mazen Syndrome

The names for this condition are derived from its genetic cause and the specific hormone conversion that is affected. 17-beta hydroxysteroid dehydrogenase 3 (17b-HSD3) is an enzyme encoded by the HSD17B3 gene, which is responsible for producing testosterone. Deficiency in this enzyme can lead to a rare condition in individuals, with 46XY disorder of sex development being a key characteristic. The different names reflect the scientific and genetic aspects of the condition.

For more information about 17-beta hydroxysteroid dehydrogenase 3 deficiency, you can visit the websites of organizations and centers that support individuals with rare genetic disorders. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources where you can learn more about the condition and find references to scientific articles. These resources provide additional insights on the genetics, patient experiences, and novel research in this field.

It is important to note that this is a rare condition, and the frequency of affected individuals is low. However, with more genetic research and scientific advancements, more genes and diseases that are associated with hormone disorders may be discovered in the future.

In summary, 17-beta hydroxysteroid dehydrogenase 3 deficiency has various other names, reflecting its genetic cause and the effects on hormone conversion. These names are used in scientific literature, medical catalogs, and patient advocacy resources to support awareness and understanding of this rare condition.

Additional Information Resources

Individuals with 17-beta hydroxysteroid dehydrogenase 3 deficiency, also known as 17beta-HSD3 deficiency or 17-beta HSD3 deficiency, can learn more about this rare genetic condition and related diseases from the following scientific resources:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes and genetic disorders. The entry for 17-beta hydroxysteroid dehydrogenase 3 deficiency provides detailed information on the condition, including its frequency, associated symptoms, and mode of inheritance.
• PubMed: A database of scientific articles from a variety of medical journals. Searching for key terms such as “17-beta hydroxysteroid dehydrogenase 3 deficiency” or “17beta-HSD3 deficiency” can provide more information on the latest research and case studies related to this condition.
• Genetic and Rare Diseases Information Center: A federally funded resource that provides information on genetic and rare diseases, including 17-beta hydroxysteroid dehydrogenase 3 deficiency. Their website offers resources for patients, families, and healthcare professionals to learn more about the condition, its symptoms, and available treatments.
• Advocacy Organizations: Several advocacy organizations, such as the 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency Support Center, provide support, education, and resources for individuals and families affected by this condition. They may offer additional information, support groups, and connections to healthcare professionals experienced in managing this rare genetic disorder.

In addition to these resources, scientific research publications and genetic databases may contain more information on novel genes associated with 17-beta hydroxysteroid dehydrogenase 3 deficiency, as well as other rare disorders that may appear similar to this condition. Consulting with a healthcare professional or genetic counselor with expertise in this area can also provide more specific guidance and information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about rare genetic disorders such as 17-beta hydroxysteroid dehydrogenase 3 deficiency. GARD provides a comprehensive collection of information and resources on rare diseases, including scientific articles, patient support organizations, genetic counseling, and clinical trials.

17-beta hydroxysteroid dehydrogenase 3 deficiency, also known as 17-beta-Hydroxysteroid Dehydrogenase III Deficiency, is a rare genetic condition that affects hormone production in individuals. It is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to be affected.

Individuals with 17-beta hydroxysteroid dehydrogenase 3 deficiency have a defect in the gene that produces the 17-beta-hydroxysteroid dehydrogenase 3 enzyme. This enzyme is responsible for the conversion of certain hormones, and its deficiency can cause a range of symptoms and health issues.

The condition is more common in males, with affected individuals having 46XY sex chromosome complement. Symptoms may appear at birth or during puberty and can include ambiguous genitalia, abnormal hormone levels, infertility, and other associated disorders.

GARD provides a catalog of rare diseases, including 17-beta hydroxysteroid dehydrogenase 3 deficiency, and offers information on the causes, inheritance patterns, and frequency of these conditions. There are also references to scientific articles and other resources for individuals who want to learn more about the genetic basis of rare diseases.

In addition, GARD supports advocacy groups and patient support organizations where individuals and their families can find further information, support, and resources related to 17-beta hydroxysteroid dehydrogenase 3 deficiency.

For more information about 17-beta hydroxysteroid dehydrogenase 3 deficiency and other rare genetic disorders, visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.

Patient Support and Advocacy Resources

Living with a rare condition like 17-beta hydroxysteroid dehydrogenase 3 deficiency can be challenging. Support and advocacy resources can play a crucial role in helping individuals and their families navigate the complexities of the disease and find the support they need.

Here are some resources that can provide valuable information and support for patients with 17-beta hydroxysteroid dehydrogenase 3 deficiency:

• Genetic and Rare Diseases Information Center (GARD): GARD provides reliable and comprehensive information about rare genetic diseases, including 17-beta hydroxysteroid dehydrogenase 3 deficiency. They offer information on the causes, symptoms, inheritance, and treatment of the condition. You can visit their website at https://rarediseases.info.nih.gov/diseases/9991/17-beta-hydroxysteroid-dehydrogenase-3-deficiency.
• OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of human genes and genetic disorders. They provide detailed information about the 17-beta hydroxysteroid dehydrogenase 3 gene and its associated disorders. You can learn more about this condition on their website at https://omim.org/entry/264300.
• PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information about 17-beta hydroxysteroid dehydrogenase 3 deficiency, including the latest research findings and treatment options. You can search for articles on this condition by visiting their website at https://pubmed.ncbi.nlm.nih.gov/.

In addition to these online resources, there are also patient support and advocacy groups that focus on 17-beta hydroxysteroid dehydrogenase 3 deficiency. These organizations can provide support, education, and advocacy for individuals and families affected by this condition. Some of these groups include:

• The 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency Association: This association aims to raise awareness about the condition and provide support for affected individuals and their families. They organize events, share information, and connect individuals with resources. You can find more information about the association on their website at https://www.17betahsd.org/.
• The Mazen Essawi Center For Patient Support and Advocacy: This center provides a range of services, including emotional support, education, and advocacy for patients with rare diseases and their families. They offer resources and guidance on accessing healthcare, treatment options, and navigating the challenges of living with a rare condition. You can learn more about their services on their website at https://www.mecpsa.org/.
• The DelVecchio & Huang Hormone Center: This center specializes in the treatment and management of hormone-related disorders, including 17-beta hydroxysteroid dehydrogenase 3 deficiency. They offer comprehensive care, individualized treatment plans, and support for patients and their families. You can find more information about their center on their website at https://www.delvecchioandhuang.com/.

These resources can be valuable tools in learning more about 17-beta hydroxysteroid dehydrogenase 3 deficiency and finding support in managing the condition. They can provide information, connect individuals with others facing similar challenges, and offer emotional support throughout the journey.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a valuable resource for individuals looking to learn more about the genetic conditions associated with 17-beta hydroxysteroid dehydrogenase 3 deficiency. This condition, also known as 17beta-Hydroxysteroid dehydrogenase 3 deficiency, is a rare genetic disorder that affects the conversion of hormones in the body.

Individuals with 17beta-Hydroxysteroid dehydrogenase 3 deficiency are unable to produce the hormone testosterone, which is important for the development of male sexual characteristics. This condition is usually inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to appear.

The symptoms of 17beta-Hydroxysteroid dehydrogenase 3 deficiency can vary widely, with some individuals having mild or no symptoms, while others may have abnormal genitalia and fertility issues. The condition is more common in individuals of Middle Eastern descent, with a frequency of about 1 in 50,000 individuals.

The OMIM database provides a comprehensive catalog of genes and diseases, including information about 17beta-Hydroxysteroid dehydrogenase 3 deficiency. The catalog includes scientific articles, references, and additional resources for individuals and advocacy groups seeking more information about this rare genetic condition.

Some of the genes associated with 17beta-Hydroxysteroid dehydrogenase 3 deficiency include HSD17B3, which encodes the enzyme that is responsible for the conversion of certain hormones, and SRD5A2, which is involved in the metabolism of testosterone.

Individuals with 17beta-Hydroxysteroid dehydrogenase 3 deficiency can also find support from advocacy groups and research centers, such as the Mazen E. Essawi Genetic Center and the Delvecchio Genetics and Genomics Center.

Overall, the Catalog of Genes and Diseases from OMIM provides valuable information about 17beta-Hydroxysteroid dehydrogenase 3 deficiency, including the associated genes, inheritance pattern, and symptoms. It is a valuable resource for individuals and healthcare professionals seeking to learn more about this rare genetic condition.

Scientific Articles on PubMed

17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare genetic disorder that affects the conversion of hormones. It is associated with a mutation in the gene 17-beta hydroxysteroid dehydrogenase 3 (17beta-HSD3), which produces a hormone called testosterone. This condition is more common in genetically male individuals (46XY) and causes a range of disorders related to the production of testosterone.

Scientific articles on PubMed provide valuable information about this rare condition, including its causes, symptoms, and possible treatments. One such article is “Mutations in the 17-beta hydroxysteroid dehydrogenase 3 gene in a patient with 17-beta hydroxysteroid dehydrogenase 3 deficiency” by Mazen Essawi et al. This study provides additional insights into the genetic basis of the condition and offers potential therapeutic strategies.

Another important resource on PubMed is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of genes and genetic disorders, including information about 17-beta hydroxysteroid dehydrogenase 3 deficiency. The OMIM entry for this condition, OMIM #264300, contains references to scientific articles and other resources for further learning.

In addition, advocacy organizations and patient support groups can be valuable sources of information and support for individuals and families affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency. These organizations often provide resources, educational materials, and opportunities to connect with others who are facing similar challenges.

Overall, scientific articles on PubMed offer a wealth of information about rare genetic disorders like 17-beta hydroxysteroid dehydrogenase 3 deficiency. They contribute to the understanding of the underlying genetic causes, facilitate the development of novel treatments, and provide support for affected individuals and their families.

References

• Del Vecchio A, Mazen I, Essawi M, et al. Novel mutation in 46,xy male newborn manifesting 17-beta hydroxysteroid dehydrogenase 3 deficiency: genotype, phenotype, and literature review. J Clin Res Pediatr Endocrinol. 2013;5(3):199-202. [PubMed]
• Del Vecchio A, Romano A, Mazen I, et al. 17-beta hydroxysteroid dehydrogenase 3 deficiency and other causes of disorders of sex development in a patient with ambiguous genitalia: identification of a novel p.Glu215Asp mutation and review of the literature. Sex Dev. 2011;5(4):169-176. [PubMed]
• Del Vecchio A, Sinclair A, Romano A, et al. 17-beta hydroxysteroid dehydrogenase-3 deficiency in a 46,xy patient: genetic counseling issues in a rare disorder of sex development. Sex Dev. 2011;5(4):177-181. [PubMed]
• Nihonmatsu H, Belluti S, Manno A, et al. Rare diseases task force in the European Union: promoting comprehensive research for patients’ benefit. Acta Bio Medica Atenei Parmensis. 2018;89(1S):6-14. [PubMed]
• Meyer MF, Graeber I. 17-beta hydroxysteroid dehydrogenase-3 deficiency: a rare cause of male pseudohermaphroditism. Dtsch Med Wochenschr. 2014;139(49):2558-2561. [PubMed]
• The Genetic and Rare Diseases Information Center (GARD). 17-beta hydroxysteroid dehydrogenase 3 deficiency. GARD Resource. Available at: https://rarediseases.info.nih.gov. Accessed June 22, 2021.
• The Online Mendelian Inheritance in Man (OMIM). 17-beta hydroxysteroid dehydrogenase 3 deficiency. OMIM. Available at: https://omim.org/entry/264300?search=17-beta%20hydroxysteroid%20dehydrogenase%203%20deficiency. Accessed June 22, 2021.