5-alpha reductase deficiency is a rare genetic condition that affects the formation of the enzyme 5-alpha reductase, which plays a crucial role in the conversion of testosterone to dihydrotestosterone (DHT). The gene responsible for this genetic disorder is known as the SRD5A gene, and mutations in this gene can cause a deficiency in the enzyme’s activity.

This condition is also known by other names, such as 5-alpha-reductase type 2 deficiency, 5-ARD, or pseudohermaphroditism. It is estimated to occur in about 1 in 130,000 to 1 in 240,000 live births, although the frequency may vary in different populations. People with this deficiency often exhibit ambiguous genitalia at birth, which can cause challenges in assigning their biological sex.

The signs and symptoms of 5-alpha reductase deficiency can vary, but affected individuals may have a predominantly female appearance at birth, with normal-appearing female external genitalia. However, as they reach puberty, these individuals may develop more masculine secondary sexual characteristics, such as increased muscle mass and hair growth.

Diagnosis of 5-alpha reductase deficiency can be confirmed through genetic testing, which can identify mutations in the SRD5A gene. It is important to diagnose this condition early to provide appropriate medical and psychological support to affected individuals and their families. Treatment options may include hormone replacement therapy and surgical interventions to help align an individual’s physical appearance with their gender identity.

Scientific research and genetic studies on 5-alpha reductase deficiency continue to develop our understanding of this rare condition. Clinical trials and articles in scientific journals, such as OMIM and PubMed, provide additional information about the genetic causes, clinical features, and management of this condition. Resources such as the Genetic and Rare Diseases Information Center (GARD) and advocacy organizations support affected individuals and their families by providing educational resources and connecting them with scientific and medical expertise.

Frequency

5-alpha reductase deficiency is a rare genetic condition. According to a catalog of rare diseases, the estimated frequency of this condition is unknown.

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Research on the frequency of 5-alpha reductase deficiency is limited. Currently, there is not enough data to clearly determine the exact frequency of this condition in the general population.

The deficiency of the 5-alpha reductase enzyme is an inherited condition. It is caused by mutations in the SRD5A2 gene, which is responsible for producing the enzyme. Due to the rarity of this condition, the frequency of these gene mutations is also not well understood.

Children with 5-alpha reductase deficiency often have ambiguous genitalia at birth, which can make it difficult to identify the condition without further testing. The signs and symptoms of this condition can vary widely, and some individuals may not show any obvious signs of the condition until later in life.

There are currently limited resources available for patients and their families to learn about this rare condition. Additional information and support can be found through advocacy groups, scientific research, and genetic testing centers.

More research and studies are needed to better understand the frequency, causes, and associated genes of 5-alpha reductase deficiency. Information on clinical trials and ongoing research can be found on websites such as PubMed and ClinicalTrials.gov.

For additional information and resources on 5-alpha reductase deficiency, the following websites can be helpful:

• OMIM: A database of genetic diseases that provides detailed information on various conditions, including 5-alpha reductase deficiency.
• Genetic and Rare Diseases Information Center (GARD): A resource center that provides information and support for patients and families affected by genetic conditions.
• 5-alpha-reductase Deficiency Advocacy and Support: An advocacy group that provides support and resources for individuals with 5-alpha reductase deficiency and their families.
• International Conference on Disorders of Sex Development: A conference that brings together experts in the field to discuss and learn about various disorders of sex development, including 5-alpha reductase deficiency.

Causes

Steroid 5-alpha reductase deficiency is a genetic condition that affects the formation of male sexual characteristics. It is caused by mutations in the SRD5A2 gene, which provides instructions for making the 5-alpha reductase enzyme. This enzyme is responsible for converting the hormone testosterone into its more potent form, dihydrotestosterone (DHT), in the development of male genitals and other androgen-dependent organs.

There are two types of steroid 5-alpha reductase deficiency: type 1 and type 2. Type 1 deficiency is less common and is characterized by a more severe underdevelopment of male genitals, while type 2 deficiency is more common and has a milder effect.

The inheritance of steroid 5-alpha reductase deficiency is autosomal recessive, which means that both parents must carry a copy of the mutated gene in order for a child to develop the condition. However, not all individuals with mutations in the SRD5A2 gene will develop the signs and symptoms of the condition, indicating that other genetic or environmental factors may also play a role in the disease’s development.

Studies have shown that the frequency of steroid 5-alpha reductase deficiency varies among different populations. The condition appears to be more common in certain ethnic groups, such as individuals of Dominican, Arab, or Iranian descent.

The signs and symptoms of steroid 5-alpha reductase deficiency are often not clearly evident at birth and may become apparent at different stages of development. In some cases, individuals with this condition may be born with external female genitalia and develop male secondary sexual characteristics during puberty. They may also have sparse facial and body hair, a higher voice pitch, and smaller testes.

Currently, there are resources available for genetic testing, diagnosis, and support for individuals and families affected by steroid 5-alpha reductase deficiency. The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders that provides information about the condition. The Genetic Testing Registry (GTR) and the National Institutes of Health (NIH) provide lists of laboratories that offer testing for this condition. Organizations like the 5-alpha-reductase Deficiency Support & Advocacy Center and the Diseases Associated With 5-Alpha-Reductase Deficiency provide additional resources and support for individuals and families.

Further research and genetic studies are ongoing to learn more about the causes and potential treatments for steroid 5-alpha reductase deficiency. Scientific articles and publications can be found on PubMed, and clinical trials related to this condition can be found on ClinicalTrials.gov.

Learn more about the gene associated with 5-alpha reductase deficiency

5-alpha reductase deficiency is a rare genetic condition that affects the formation of male sexual organs during development. It is caused by mutations in the SRD5A2 gene, which provides instructions for making the enzyme called 5-alpha reductase. This enzyme converts the male sex hormone testosterone into dihydrotestosterone (DHT), which is important for the development of male genitalia.

There are two types of 5-alpha reductase, known as Type 1 and Type 2. The deficiency is primarily associated with a mutation in the Type 2 form of the enzyme, which is encoded by the SRD5A2 gene.

When there is a mutation in the SRD5A2 gene, the enzyme 5-alpha reductase is not able to produce enough DHT. As a result, male genitalia may not fully develop, and affected individuals may have ambiguous genitalia or external female genitalia at birth. However, internal structures such as the testes are usually present.

Children with 5-alpha reductase deficiency often develop male secondary sexual characteristics, such as increased muscle mass and deepening of the voice, during puberty. The condition can vary in severity, and some individuals may not be diagnosed until later in life.

To confirm a diagnosis of 5-alpha reductase deficiency, genetic testing can be performed to identify mutations in the SRD5A2 gene. This testing is typically recommended for individuals with signs and symptoms of the condition.

Additional information about 5-alpha reductase deficiency can be found in scientific articles and research studies. PubMed is a valuable resource for accessing these articles, which can provide more detailed information about the genetic causes and clinical features of the disease. The ClinicalTrials.gov website may also have information on any ongoing research studies or clinical trials related to 5-alpha reductase deficiency.

Support and advocacy resources are available for individuals and families affected by 5-alpha reductase deficiency. Organizations such as the 5-Alpha Reductase Deficiency Support Center provide information, support, and resources for affected individuals and their families.

References:

1. Imperato-McGinley J, Guerrero L. The diagnosis of 5alpha-reductase deficiency in infancy. J Pediatr Endocrinol Metab. 1996;9(2):183-90. PMID: 8793951.
2. Sultan C, Paris F, Jeandel L, et al. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 2015;16:138. doi:10.1186/s13059-015-0695-5
3. Sato T. Molecular aspects and clinical management of 5alpha-reductase deficiency. J Steroid Biochem Mol Biol. 2020;196:105500. doi:10.1016/j.jsbmb.2020.105500

Inheritance

5-alpha reductase deficiency is a rare genetic condition that affects the formation of the hormone called dihydrotestosterone (DHT). This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Parents who carry one copy of the mutated gene are referred to as carriers. They do not typically show any signs or symptoms of the condition, but they have a 50% chance of passing the mutated gene on to each of their children. If both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit two copies of the mutated gene and develop 5-alpha reductase deficiency.

There are several resources available for individuals and families affected by 5-alpha reductase deficiency to learn more about the condition and its inheritance. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes, inheritance patterns, and clinical features of rare diseases, including 5-alpha reductase deficiency.

The Genetic and Rare Diseases Information Center (GARD) also offers a catalog of resources on 5-alpha reductase deficiency, including articles, scientific studies, and references to additional support and advocacy organizations. These resources can help patients and their families stay informed and access the support they need.

To confirm a diagnosis of 5-alpha reductase deficiency, genetic testing can be performed to identify mutations in the SRD5A2 gene. This gene provides instructions for making the enzyme responsible for the production of DHT. Testing is often done on a blood or saliva sample and can help determine the specific type of 5-alpha reductase deficiency a patient has.

If you or your child has been diagnosed with 5-alpha reductase deficiency, it is important to consult with a healthcare professional or specialist who is experienced in managing this condition. They can provide guidance on treatment options, hormonal therapy, and ongoing monitoring to help manage the signs and symptoms of the condition.

References:

• Genetic and Rare Diseases Information Center (GARD). (2020). 5-alpha reductase deficiency. Retrieved from
  https://rarediseases.info.nih.gov/diseases/7475/5-alpha-reductase-deficiency
• Online Mendelian Inheritance in Man (OMIM). (2020). SRD5A2 – steroid 5 alpha-reductase 2. Retrieved from
  https://omim.org/entry/607306
• U.S. National Library of Medicine. (2020). 5-alpha reductase deficiency. Retrieved from
  https://pubmed.ncbi.nlm.nih.gov/31638484/
• U.S. National Library of Medicine. (2021). ClinicalTrials.gov. Retrieved from
  https://www.clinicaltrials.gov/

Other Names for This Condition

5-alpha reductase deficiency is also known by several other names, including:

• 5-alpha reductase type 2 deficiency
• 5-alpha reductase 2 deficiency
• 5-alpha-reductase-2-related male pseudohermaphroditism
• Male pseudohermaphroditism, 5-alpha reductase type 2 deficiency
• Pseudohermaphroditism, male, with 5-alpha reductase 2 deficiency

This condition can also be referred to using the acronym “5-ARD”.

It is important to note that these alternative names may be used interchangeably and may appear in scientific articles, research studies, and other sources of information about 5-alpha reductase deficiency.

Additional Information Resources

Here are some additional resources where you can find more information about 5-alpha reductase deficiency:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes, signs, and inheritance of various diseases, including 5-alpha reductase deficiency. You can search for the condition by its OMIM number (264600).
• PubMed: PubMed is a comprehensive database of scientific articles on various medical and genetic conditions. You can find research studies, case reports, and more by searching for “5-alpha reductase deficiency” or related keywords.
• ClinicalTrials.gov: This website provides information about ongoing clinical trials related to 5-alpha reductase deficiency. You can find studies that are currently recruiting patients, as well as information on their purpose, eligibility criteria, and location.
• Genetic Advocacy Organizations: Various organizations, such as the 5-alpha-reductase Support and Information Network, provide support and resources for individuals and families affected by 5-alpha reductase deficiency. These organizations often have additional information, helpful articles, and support networks for patients and their families.
• Genetic Testing: Genetic testing can confirm a diagnosis of 5-alpha reductase deficiency. You can consult a genetic counselor or talk to your healthcare provider to learn more about the testing process and its availability in your region.

By utilizing these resources, you can develop a better understanding of the condition, its causes, the frequency with which it occurs, and the available support for affected individuals. Stay informed and seek appropriate medical care for yourself or your loved ones.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding the causes of 5-alpha reductase deficiency. This condition is a genetic disorder that affects the enzyme 5-alpha reductase, which is responsible for the production of the hormone dihydrotestosterone (DHT).

With 5-alpha reductase deficiency, individuals often appear to develop as females during childhood, but during puberty, they may masculinize due to the changes in hormone levels. This condition is associated with a wide range of signs and symptoms, including abnormal formation of the external genitalia, irregular hair growth, infertility, and other hormone-related issues.

Genetic testing can help confirm the diagnosis of 5-alpha reductase deficiency and determine the specific type and inheritance pattern. There are several different genes that can be associated with this condition, and testing can identify the specific gene mutation responsible for the disease in an individual.

There are various resources available to learn more about genetic testing for 5-alpha reductase deficiency. The OMIM database contains detailed information about the gene and inheritance patterns associated with this condition. Other resources include scientific articles, research studies, and publications from advocacy and support organizations.

The National Center for Biotechnology Information’s PubMed database is a valuable resource for finding scientific articles and research studies related to 5-alpha reductase deficiency. It provides access to a wide range of information about the genetic causes, clinical features, and treatments associated with this rare condition.

Additionally, the ClinicalTrials.gov website can provide information about ongoing research studies and clinical trials related to 5-alpha reductase deficiency. Participating in these studies can contribute to the understanding and management of the condition.

It is important to note that genetic testing is not always necessary or appropriate for everyone with 5-alpha reductase deficiency. Genetic testing should be considered on an individual basis in consultation with a healthcare professional experienced in genetic testing and counseling.

The Genetic Testing Information Center provides comprehensive information on genetic testing for a wide variety of diseases, including 5-alpha reductase deficiency. It offers resources for patients and their families, including information about the testing process, genetic counseling, and available support services.

In conclusion, genetic testing is an essential tool for diagnosing and understanding 5-alpha reductase deficiency. It can provide valuable information about the specific gene mutations responsible for the disease, helping guide appropriate treatment and management strategies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information portal that provides reliable and up-to-date information on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD is dedicated to providing comprehensive information about rare diseases to patients, their families, healthcare professionals, advocacy groups, and the general public.

Often, individuals affected by rare diseases face challenges in accessing accurate and reliable information. GARD aims to address this need by providing a trusted source of information on genetic and rare diseases. Through GARD, individuals can learn about the signs, symptoms, causes, and inheritance patterns of various rare diseases, including 5-alpha-reductase deficiency.

5-alpha-reductase deficiency is a rare genetic condition that affects the production of a hormone called dihydrotestosterone (DHT). This condition is associated with the deficiency of the enzyme 5-alpha-reductase, which plays a crucial role in the formation of DHT. Individuals with this condition may develop ambiguous genitalia during fetal development, and the condition may become more apparent during puberty when secondary sexual characteristics, such as facial and body hair, fail to develop as expected.

The frequency of 5-alpha-reductase deficiency is not clearly defined, but it is considered to be a rare condition. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for a child to be affected. Genetic testing can be performed to confirm a diagnosis of 5-alpha-reductase deficiency.

GARD provides a wide range of resources related to 5-alpha-reductase deficiency and other genetic diseases. The GARD catalog includes articles, scientific references, conference proceedings, and additional resources for further reading. Moreover, GARD also provides information on ongoing research studies and clinical trials related to 5-alpha-reductase deficiency, making it a valuable resource for patients and their families.

For more information on 5-alpha-reductase deficiency and other rare diseases, individuals can visit the GARD website at https://rarediseases.info.nih.gov/. Additional resources can also be found through the Office of Rare Diseases Research (ORDR), OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

Patient Support and Advocacy Resources

If you or someone you know is affected by 5-alpha reductase deficiency and would like more information, support, or advocacy resources, the following organizations and websites may be helpful:

• 5-Alpha Reductase Deficiency Support Center: This organization provides information and support for individuals and families affected by 5-alpha reductase deficiency.
• Genetic and Rare Diseases Information Center: This center provides a wealth of information about rare genetic diseases, including 5-alpha reductase deficiency. They offer resources to help patients and their families learn more about their condition.
• OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on the genes, inheritance patterns, and clinical features of various genetic diseases, including 5-alpha reductase deficiency.
• PubMed: PubMed is a database of scientific articles and research studies. Searching for “5-alpha reductase deficiency” will yield a variety of articles and studies on the condition.
• ClinicalTrials.gov: This website provides information on ongoing clinical trials and research studies related to 5-alpha reductase deficiency. Patients may find information about participation in clinical trials or new treatments being developed.

It is important to note that 5-alpha reductase deficiency is a rare condition, and there may be limited resources available specifically dedicated to this disorder. However, there are many resources available for genetic diseases in general that may provide useful information and support.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about the diseases and conditions associated with 5-alpha reductase deficiency. These studies reference scientific research articles, clinical trials, and genetic studies that focus on understanding the causes, symptoms, and inheritance patterns of this rare genetic condition.

Many of these research studies examine the effects of the deficiency on hair formation and other signs of the condition. They often explore the frequency of the deficiency and the types of genetic mutations that can cause it.

One of the main resources for learning about 5-alpha reductase deficiency is OMIM (Online Mendelian Inheritance in Man). This comprehensive catalog provides information on the genetic basis of the deficiency, associated symptoms and conditions, and the inheritance patterns of the gene mutations.

ClinicalTrials.gov also provides information on ongoing clinical trials and research studies that aim to develop new treatments and testing methods for 5-alpha reductase deficiency. These studies may involve patient advocacy organizations and research centers, and they often rely on the support of the affected community.

Additional resources for research studies on 5-alpha reductase deficiency include PubMed, which offers a vast collection of scientific articles and publications related to the condition. The International 5-alpha Reductase Deficiency Support Center is also a valuable resource for patients and their families, providing information, support, and educational materials.

Research studies from ClinicalTrials.gov and other resources help expand our understanding of 5-alpha reductase deficiency and contribute to the development of new treatments and testing methods for this rare genetic condition. They provide a wealth of knowledge for researchers, healthcare professionals, and affected individuals to better understand and manage the condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for gathering scientific information on various genetic conditions. It provides support and information for researchers, clinicians, and advocacy groups interested in learning more about these rare diseases.

The catalog contains a comprehensive list of genes and diseases, including the 5-alpha reductase deficiency. This condition is an inherited disorder that affects the production of the hormone 5-alpha-reductase, which is responsible for the formation of a specific type of steroid. This deficiency often causes children with the condition to develop atypical signs of puberty and may also result in abnormal hair growth.

OMIM provides information on the frequency of this condition, the mode of inheritance, and associated genes. It also offers resources for genetic testing and references to research studies and articles published in scientific journals, such as PubMed.

Patients and advocacy groups can find support through OMIM, with access to information on clinical trials, genetic testing centers, and conferences related to the condition. The catalog aims to bring together all available resources and provide comprehensive information for those affected by rare genetic diseases such as 5-alpha reductase deficiency.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and patients, providing information on genetic conditions such as 5-alpha reductase deficiency. It supports scientific research, genetic testing, and advocacy efforts aimed at improving the understanding and management of rare diseases.

Scientific Articles on PubMed

5-alpha reductase deficiency is a rare genetic condition that often causes hair and other signs of androgen excess to appear in affected individuals. It is caused by mutations in the gene that codes for the enzyme 5-alpha reductase. The deficiency of this enzyme leads to a decrease in the formation of a specific hormone, which results in the development of ambiguous genitalia in affected individuals.

There are many scientific articles available on PubMed that discuss the various aspects of 5-alpha reductase deficiency. These articles provide valuable information on the clinical presentation, genetic causes, and inheritance pattern of this condition. They also highlight the associated diseases and medical complications that may arise in individuals with 5-alpha reductase deficiency. Some of these articles even describe the experiences of patients with this condition and the support and advocacy resources available to them.

These scientific articles serve as important resources for researchers, clinicians, and other healthcare professionals who are interested in learning more about 5-alpha reductase deficiency. They provide a comprehensive catalog of studies and references that can help advance our understanding of this rare condition. Additionally, they may also provide valuable information for families and individuals affected by 5-alpha reductase deficiency, such as information on genetic testing, patient support groups, and clinical trials.

Further research and studies are needed to better understand the frequency and more rare types of 5-alpha reductase deficiency, as well as its associated diseases and the additional genes involved in its development. The scientific articles available on PubMed play a crucial role in advancing our knowledge of this condition and its underlying genetic and hormonal mechanisms.

In summary, PubMed is a valuable resource for accessing scientific articles on 5-alpha reductase deficiency. These articles provide important information on the genetic causes, clinical presentation, associated diseases, and resources available for individuals with this condition. They are essential for researchers, clinicians, and families affected by 5-alpha reductase deficiency to learn more about this rare genetic disorder and its implications.

References

• 5-alpha reductase deficiency. (n.d.). Retrieved from Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/diseases/7393/5-alpha-reductase-deficiency
• 5-alpha reductase deficiency. (n.d.). Retrieved from OMIM website: https://www.omim.org/entry/607306
• 5-alpha reductase deficiency. (n.d.). Retrieved from Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/guides/pages/59/5-alpha-reductase-deficiency
• 5-alpha reductase deficiency. (n.d.). Retrieved from Genetic and Rare Diseases Information Center website: https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1128/viewAbstract
• 5-alpha-reductase deficiency. (n.d.). Retrieved from Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/diseases/996/5-alpha-reductase-deficiency
• 5-alpha reductase deficiency. (n.d.). Retrieved from Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/guides/pages/59/5-alpha-reductase-deficiency
• Aberle, C., et al. (2017). The 5-alpha-reductase: A Tale of Steroid Metabolism, Progress, and Controversy. Journal of Hormone and Metabolic Research, 49(11), 807-819. doi: 10.1055/s-0043-118310
• Harrison, S. (2020). 5-alpha-reductase deficiency. In StatPearls. Retrieved from PubMed website: https://pubmed.ncbi.nlm.nih.gov/28613798/
• McElreavey, K. (2010). Human Androgenesis and the Androgen Receptor in 5α Reductase‐2 Deficiency with a Mutation in 5α Reductase‐1. European Journal of Endocrinology, 162(5), 1019-1021. doi: 10.1530/eje-09-0899
• Méndez, J. P., et al. (2018). The 5-alpha-reductase Deficiency in a Pediatric Population: Patient and Mutation Update. Journal of Pediatric Endocrinology & Metabolism, 31(4), 415–422. doi: 10.1515/jpem-2017-0397
• Wang, C., et al. (2017). 5α-Reductase Type 2 Deficiency: Identification of a Novel Mutation 1649insG in the Steroid-Binding Domain of Human Androgen Receptor Gene in a Thai Patient. Hormone Research in Pediatrics, 88(3-4), 237-243. doi: 10.1159/000477161