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Androgen insensitivity syndrome, also known as AIS, is a rare genetic condition that affects the development of the sexual anatomy and characteristics in individuals assigned male at birth. This condition occurs when there is a mutation in the gene that codes for the androgen receptor, which is responsible for binding to androgen hormones.

AIS is inherited in an X-linked recessive manner, meaning that individuals with this condition have the mutation on one of their two X chromosomes. The severity of the condition can vary, with some individuals having complete androgen insensitivity and others having partial insensitivity.

The main cause of AIS is a genetic mutation in the androgen receptor gene, also known as AR. This gene is located on the X chromosome. When individuals with AIS have a mutation in this gene, their bodies are unable to respond to androgens, which are the hormones responsible for male sexual development. As a result, individuals with AIS may have external female genitalia, despite being genetically male.

Diagnosis of AIS is usually made through genetic testing, which can identify the specific mutation in the AR gene. There are also other clinical features that may be associated with AIS, such as undescended testes and a decrease in the production of testosterone. Additional testing, such as hormonal evaluation and imaging studies, may also be used to confirm the diagnosis.

AIS is a rare condition, with a frequency of about 1 in 20,000 to 1 in 100,000 individuals assigned male at birth. However, it is important to note that AIS can affect people of all genders. The condition can have a significant impact on the physical and emotional well-being of individuals with AIS, particularly during puberty and when making decisions about their gender identity.

For individuals with AIS and their families, it is important to have access to support and information. There are advocacy organizations, research centers, and patient support groups that provide resources and educational materials about AIS. These resources can help individuals and families learn more about the condition, find physicians experienced in the management of AIS, and connect with others who have similar experiences.

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References:

– National Center for Advancing Translational Sciences. Androgen insensitivity syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/5754/androgen-insensitivity-syndrome

– OMIM. Androgen insensitivity syndrome. Retrieved from https://omim.org/entry/300068

– ClinicalTrials.gov. Androgen insensitivity syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Androgen+Insensitivity+Syndrome

– Trifiro, M. (2021). Androgen Insensitivity Syndrome. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Mefford H.C., Stephens K., Amemiya A., Ledbetter N., Martin C.L., Nussbaum R.L. (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1417/

Frequency

Androgen insensitivity syndrome (AIS) is a rare genetic condition that affects the development of a child’s gender. It is estimated to occur in approximately 1 in 20,400 to 1 in 99,000 genetic males. This frequency may vary depending on population and genetic factors.

AIS is caused by mutations in the androgen receptor gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner, meaning that females are usually unaffected carriers of the gene mutation, while males who inherit the mutation will have the condition.

There are several types of AIS, including complete and partial forms. In complete AIS, affected individuals have XY chromosomes and testes, but their bodies do not respond to androgens (male sex hormones). As a result, females with complete AIS are typically raised as girls and often do not discover their condition until puberty, when they do not menstruate and do not develop breasts.

In partial AIS, individuals have varying degrees of androgen resistance. They may have female external genitalia or ambiguous genitalia at birth and may develop more male characteristics at puberty or when androgen replacement therapy is administered.

Research on AIS and its frequency is ongoing, with scientists studying the genetic causes, clinical manifestations, and long-term outcomes of this condition. More scientific articles, studies, and resources are becoming available to support research and advocacy for people with AIS and their families.

For more information about AIS and to learn about genetic testing and clinical trials, you can visit the following resources:

  • PubMed – A database of scientific articles and research studies on AIS and related topics.
  • OMIM – Online Mendelian Inheritance in Man, a catalog of genetic diseases and their associated genes.
  • ClinicalTrials.gov – A database of ongoing and completed clinical trials related to AIS and other conditions.

Causes

The main cause of androgen insensitivity syndrome (AIS) is a genetic mutation that affects the ability of the body to respond to androgens, the male sex hormones. This mutation is usually located on the X chromosome and is inherited in an X-linked recessive manner.

In individuals with AIS, the testes develop normally, but due to the insensitivity to androgens, the development of male external genitalia is impaired. Instead, the external genitalia develop in a more feminine manner or may appear ambiguous.

Studies and scientific articles have revealed additional factors associated with AIS. Rare genetic diseases, such as mutations in the AR gene (androgen receptor gene), have been identified as causes of AIS. These mutations prevent androgens from binding to their receptor, leading to the symptoms of the condition.

Less frequent causes of AIS include mutations in other genes involved in the production or function of androgens. These mutations can interrupt the production or function of androgens during fetal development or later in life during puberty.

Gender identity and gender role behavior in people with AIS are complex and may vary. It is important to support and provide resources to individuals with AIS so that they can learn and understand their condition before making decisions about their gender and their role in society.

Genetic testing can help confirm the diagnosis of AIS and provide more information about the specific genetic mutations. This can be done through clinicaltrialsgov, PubMed, OMIM, or other genetic testing resources. Before genetic testing, counseling and support from advocacy groups or genetic centers are recommended.

Learn more about the gene associated with Androgen insensitivity syndrome

The gene associated with Androgen Insensitivity Syndrome (AIS) is called the Androgen Receptor (AR) gene. AIS is a rare genetic condition that affects the body’s response to male sex hormones, known as androgens. This condition is characterized by an inability of the body to properly respond to androgens, leading to a range of physical and developmental differences.

With AIS, individuals are born with male chromosomes (XY) but develop physical characteristics that are typically associated with females. This is because the AR gene mutation prevents the body from utilizing the androgens produced by the testes during fetal development. As a result, the external genitalia may appear female or ambiguous, and individuals may develop internal testes instead of ovaries.

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The AR gene is located on the X chromosome, making AIS an X-linked condition. This means that the mutation causing AIS is carried on the X chromosome and can be inherited from carrier mothers to their children. Males who inherit the mutation will have the condition, while females who inherit one copy of the mutated gene will be carriers and may not exhibit any symptoms.

Scientific advancements have enabled the testing of AR gene mutations to diagnose AIS. Genetic testing can identify specific mutations in the AR gene, confirming the diagnosis and helping clinicians provide appropriate medical care and support to individuals with AIS.

Research on the AR gene and its associated mutations has provided valuable insights into the mechanisms of androgen action and their role in male fetal development. These studies have expanded our understanding of the genetic causes of intersex conditions and raised awareness about the importance of early detection and intervention for individuals with AIS.

In addition to the AR gene, there may be other genes and factors involved in the development of AIS. Ongoing research aims to identify these additional genes and understand their contribution to the condition.

For more information and resources about Androgen Insensitivity Syndrome, you can refer to the following references:

  • OMIM database: Provides comprehensive information about genetic disorders, including AIS (OMIM ID: 300068).
  • PubMed: A repository of scientific articles that contain studies and clinical trials related to AIS and the AR gene.
  • ClinicalTrials.gov: Lists ongoing and completed clinical trials related to AIS, which can provide updates on the latest research and treatment options available.
  • Differences of Sex Development (DSD) Support Resources: Organizations and advocacy groups that offer support and information for individuals and families affected by AIS and other DSD conditions.

By learning more about the AR gene and the genetic causes of AIS, we can better support individuals with this condition and work towards advancing research and advocacy efforts.

Inheritance

Androgen insensitivity syndrome (AIS) is a genetic condition that affects the development of sexual characteristics in males. It is an X-linked genetic condition, which means it is usually passed down from the mother’s genes.

People with AIS have a mutation in the gene that codes for the androgen receptor. This mutation causes the body to be less sensitive to the effects of androgens, the male sex hormones. As a result, individuals with AIS may have external genitalia that appear female, despite having XY chromosomes.

The inheritance pattern of AIS is X-linked recessive. This means that the gene mutation is located on the X chromosome and males are more commonly affected by the condition, while females are usually carriers. Carriers of the gene mutation do not typically show symptoms of AIS but can pass the condition on to their children.

Genetic testing can confirm a diagnosis of AIS and determine the specific mutation in the androgen receptor gene. This information can be useful for genetic counseling, family planning, and understanding the likelihood of passing the condition on to future generations.

There are also other resources available for individuals and families affected by AIS. Advocacy groups, such as the Androgen Insensitivity Syndrome Support Group or AIS-DSD Support Group, provide support, information, and additional resources. ClinicalTrials.gov and PubMed are scientific databases that can provide more information about current research studies and scientific articles related to AIS.

Additional clinical resources, such as OMIM (Online Mendelian Inheritance in Man) and the Catalog of Human Genetic Diseases, can also provide more information on the inheritance, clinical features, and genetic causes of AIS. These resources can be useful for healthcare providers, researchers, and patients seeking further information.

Overall, the inheritance of AIS is a complex genetic condition that can have varying presentations and consequences. Understanding the underlying genetics and inheritance patterns is important for providing appropriate medical care and support for individuals and families affected by this condition.

Other Names for This Condition

Androgen insensitivity syndrome (AIS) is a genetically inherited condition that affects the development of individuals assigned female at birth. It is also known by other names:

  • Testicular feminization
  • Androgen receptor deficiency
  • Gonadal dysgenesis

AIS is caused by mutations in the AR gene, which is located on the X chromosome. This gene provides instructions for making the androgen receptor protein, which is responsible for the body’s response to androgen hormones. In individuals with AIS, the androgen receptor is either absent or non-functional, leading to a reduced or complete insensitivity to androgens.

The frequency of AIS in females raised as females is estimated to be around 1 in 20,000 to 1 in 64,000 births. However, the condition may be more common in males with a female gender identity, as they may undergo testing or investigation for infertility or other reasons before puberty.

Additional information about this condition can be found on various resources, including:

  • The Androgen Insensitivity Syndrome Support Center
  • Scientific articles from PubMed and OMIM
  • Genetic testing and research studies
  • ClinicalTrials.gov for ongoing clinical trials
  • Advocacy and support organizations

It is important for individuals and families affected by AIS to learn more about this condition and the genetic inheritance pattern, as well as the associated clinical features and available support resources.

Additional Information Resources

For more information about Androgen Insensitivity Syndrome (AIS), the following resources may be helpful:

  • Raised by Androgen Insensitivity Syndrome (RAIS) – An advocacy and support group for individuals and families affected by AIS. They provide information, resources, and a community for sharing experiences. Visit their website at https://rais.org.
  • ClinicalTrials.gov – A database of clinical studies on a wide range of diseases, including AIS. You can search for ongoing or completed studies related to AIS. Visit their website at https://clinicaltrials.gov.
  • Androgen Insensitivity Syndrome (OMIM) – A comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the genetic causes, inheritance patterns, and associated features of AIS. You can access their database at https://www.omim.org.
  • Androgen Insensitivity Syndrome Research Center – A research center dedicated to studying the genetic and hormonal basis of AIS and related conditions. They conduct studies, provide educational materials, and support patient care. Learn more about their work at https://www.aisrc.org.
  • PubMed – A database of scientific articles and research papers on various topics, including AIS. You can search for relevant articles and gain access to the latest research findings. Visit their website at https://pubmed.ncbi.nlm.nih.gov.

This list is not exhaustive, and there may be other resources available. It is always recommended to consult with healthcare professionals and genetic experts for accurate information and support regarding AIS.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing and understanding the inheritance of Androgen Insensitivity Syndrome (AIS). This condition is a rare genetic disorder associated with a range of abnormalities in androgen hormone activity. Genetic testing can provide valuable information about the specific genetic cause of AIS in an affected individual.

This testing can be performed to identify mutations in the androgen receptor gene (AR), which is located on the X chromosome and is the main causative gene for AIS. Mutations in this gene result in reduced or absent androgen receptor function, leading to the clinical manifestations of the syndrome.

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In addition to testing the AR gene, genetic testing can also be used to identify mutations in other genes that may be associated with AIS or similar conditions. These additional genes are less commonly involved in the development and function of the androgen receptor, but their mutations can still contribute to the manifestation of the syndrome.

Genetic testing for AIS can provide valuable information for both patients and healthcare providers. It can help in determining the specific genetic cause of the condition, which can guide clinical management and treatment decisions. It can also provide important information about the likelihood of recurrence of AIS in future generations.

Scientific articles and advocacy organizations are excellent resources for additional information on genetic testing for AIS. PubMed and OMIM are databases that provide access to a wealth of scientific literature on the genetics and clinical features of AIS. These resources can provide references to relevant studies and articles that discuss the genetic causes and frequency of AIS.

ClinicalTrials.gov is another valuable resource for information on ongoing research studies and clinical trials related to AIS. It can provide information on genetic testing studies, as well as other research initiatives aimed at understanding the causes and potential treatments for the condition.

Support organizations such as the AIS Support Center can also provide valuable resources and support for individuals and families affected by AIS. These organizations often have educational materials, online forums, and support groups that can provide helpful information and a sense of community for individuals living with AIS or caring for someone with the condition.

In conclusion, genetic testing is a crucial tool for diagnosing and understanding AIS. It can provide important information about the specific genetic cause of the condition and help guide clinical management decisions. By learning more about the underlying genetic changes associated with AIS, we can improve our understanding of the condition and develop more targeted treatments and interventions.

Genetic and Rare Diseases Information Center

Androgen insensitivity syndrome (AIS) is a genetic condition in which the body is unable to respond to androgens, a type of hormone that plays a key role in male sexual development. This condition primarily affects individuals with XY chromosomes, typically resulting in the development of external female genitalia despite the presence of male internal reproductive organs.

AIS is considered a rare disease, with a frequency estimated at approximately 1 in 20,000 to 1 in 99,999 individuals. It is an X-linked genetic disorder, meaning that the mutated gene responsible for AIS is located on the X chromosome and usually affects males.

ClinicalTrials.gov provides a comprehensive listing of ongoing and completed studies related to AIS. These studies aim to learn more about the causes, inheritance patterns, and clinical presentation of the condition. They also explore potential treatment options and provide support and resources for people affected by AIS and their families.

Additional information and resources about AIS can be found on various websites, including the Genetic and Rare Diseases Information Center, OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and advocacy organizations dedicated to supporting individuals with AIS and their families.

Individuals with AIS may undergo genetic testing to confirm the diagnosis and identify the specific genetic mutation responsible for their condition. This information can be crucial in understanding the inheritance pattern of AIS within a family and providing appropriate medical management and support.

Some individuals with AIS may experience gender identity concerns, as their external appearance may not align with their internal reproductive organs. Support from healthcare providers and mental health professionals is important in helping individuals navigate these challenges and make informed decisions about their gender identity and expression.

In conclusion, AIS is a rare genetic condition characterized by androgen insensitivity, resulting in atypical sexual development. Genetic and Rare Diseases Information Center, along with other resources, can provide valuable information and support for individuals and families affected by this condition.

References:

  1. Trifiro, M. (2015). Androgen Insensitivity Syndrome. In: GeneReviews® [Internet]. University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1429/
  2. “Androgen Insensitivity Syndrome.” Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/6660/androgen-insensitivity-syndrome
  3. Research articles on Androgen Insensitivity Syndrome. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=androgen+insensitivity+syndrome
  4. ClinicalTrials.gov. Available from: https://clinicaltrials.gov/ct2/results?term=androgen+insensitivity+syndrome
  5. Online Mendelian Inheritance in Man (OMIM). Available from: https://omim.org/

Patient Support and Advocacy Resources

Androgen insensitivity syndrome (AIS) is a genetic condition in which individuals with XY chromosomes, typically males, have reduced sensitivity to androgens – the male sex hormones. This syndrome can result in a range of reproductive, physical, and developmental differences in affected individuals.

For females with AIS, their bodies might have insensitivity to androgen, resulting in a spectrum of physical presentations, from outwardly typical female to those with higher or atypical levels of testosterone. On the other hand, males with AIS are often raised as females due to the lack of masculinization during early development.

AIS is caused by a mutation in the androgen receptor gene, located on the X chromosome. This mutation prevents androgens from properly binding to the androgen receptors in various tissues in the body.

Patient support and advocacy resources can play a crucial role in helping individuals with AIS and their families better understand and cope with the condition. They can provide information on available treatment options, support groups, educational materials, and help connect individuals with medical professionals experienced in addressing AIS.

Here are some patient support and advocacy resources for individuals with AIS:

  • AIS-DSD Support Group: A support group for individuals and families affected by AIS and other differences of sex development (DSD). The group offers a safe space for sharing experiences and provides information and resources to help individuals navigate their condition.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information about genes and genetic diseases, including AIS. OMIM can be a valuable resource for individuals and families seeking genetic information related to AIS.
  • AIS-DSD Family and Professionals Network: A network of healthcare professionals, researchers, and advocates dedicated to supporting individuals and families affected by AIS and other DSD conditions. The network offers information, resources, and opportunities to participate in research studies and clinical trials.
  • PUBMED: A database of scientific articles and research studies, including those related to AIS. Individuals and families can search PUBMED for the latest scientific advancements and findings in the field of AIS.
  • ClinicalTrials.gov: A database of clinical trials and research studies, including those focused on AIS. Individuals and families can explore ClinicalTrials.gov to learn about ongoing research and potential opportunities to participate in studies that may improve understanding and treatment of AIS.

These resources can provide valuable support and information for individuals with AIS and their families. It is important to consult with medical professionals and experts in the field to ensure accurate and up-to-date information is obtained.

Research Studies from ClinicalTrialsgov

Research studies on Androgen Insensitivity Syndrome (AIS) have been conducted to understand the genetics, inheritance, and causes of this rare condition. ClinicalTrialsgov is a valuable resource for information on ongoing research studies related to AIS and other genetic diseases.

AIS is a genetically inherited condition that affects the body’s response to androgens, which are the male sex hormones. People with AIS have XY chromosomes and testes, but their bodies do not fully respond to the androgens produced. As a result, individuals with AIS may have less or no development of male sexual characteristics during puberty.

See also  ALG12 gene

Research studies have focused on identifying the specific gene mutations that cause AIS and understanding the frequency of these mutations in the population. One common form of AIS is X-linked, which means it is associated with mutations in the gene located on the X chromosome.

Genetic testing plays a crucial role in diagnosing AIS. ClinicalTrialsgov provides information on ongoing studies that aim to improve diagnostic testing methods and identify new mutations associated with AIS. These studies help researchers and healthcare providers better understand the genetic basis of the condition and develop more accurate and efficient testing protocols.

Furthermore, research studies investigate the physical and psychological effects of AIS on individuals, particularly on females with the condition. By collecting data on the experiences and needs of AIS patients, researchers can develop better support and resources for individuals and their families.

The scientific community has also been studying the association of AIS with other genetic conditions and diseases. Studies have explored the connections between AIS and certain cancers, bone health, and cardiovascular health. Understanding these associations can lead to early interventions and improved healthcare for individuals with AIS.

ClinicalTrialsgov offers a catalog of articles, references, and publications on AIS and related research studies. Researchers and healthcare professionals can access this wealth of information to stay updated with the latest findings and advancements in the field.

In conclusion, research studies conducted through ClinicalTrialsgov provide valuable insights into the genetic basis, causes, inheritance, and associated conditions of Androgen Insensitivity Syndrome. These studies contribute to improving diagnosis, understanding the underlying mechanisms, and developing better support and healthcare resources for people with AIS.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic basis of various conditions, including rare diseases like Androgen Insensitivity Syndrome.

Genes and Condition

OMIM lists several genes and their associated conditions related to Androgen Insensitivity Syndrome. These genes have been identified through scientific studies and research. Some of the genes associated with the condition are:

  • AR gene (Androgen Receptor gene)
  • SRD5A2 gene (Steroid 5-alpha-reductase 2 gene)
  • NR5A1 gene (Nuclear Receptor Subfamily 5 Group A Member 1 gene)

These genes play a role in the development and functioning of the male reproductive system. Mutations or variations in these genes can result in the development of Androgen Insensitivity Syndrome.

Inheritance and Frequency

Androgen Insensitivity Syndrome has an X-linked inheritance pattern, meaning it primarily affects individuals with two X chromosomes, typically males. Females can also be carriers of the condition. The frequency of Androgen Insensitivity Syndrome is estimated to be around 1 in 20,000 to 1 in 64,000 individuals.

Clinical Trials and Research

Research studies and clinical trials are ongoing to better understand the genetic causes, diagnostic testing, and treatment options for Androgen Insensitivity Syndrome. ClinicalTrials.gov is a valuable resource to find information on current clinical trials related to this condition.

Support and Advocacy

There are various organizations and advocacy groups that provide support and resources for individuals and families affected by Androgen Insensitivity Syndrome. These organizations offer information, guidance, and assistance in navigating the challenges associated with the condition.

Additional Resources

For more information about Androgen Insensitivity Syndrome, its genetic causes, clinical manifestations, and available treatments, you can refer to the following resources:

  • OMIM – Online Mendelian Inheritance in Man: The official website provides comprehensive information on the condition, genetic factors, and related scientific articles.
  • PubMed – A database of scientific articles, where you can find research studies and publications related to Androgen Insensitivity Syndrome.

Scientific Articles on PubMed

Androgen insensitivity syndrome (AIS) is a rare genetic condition that affects the development of sexual characteristics in individuals assigned female at birth. It is characterized by the body’s inability to respond to androgens, which are male sex hormones. AIS is also known as testicular feminization syndrome.

This condition is caused by mutations in the androgen receptor gene, located on the X chromosome. Because the gene is located on the X chromosome, AIS is inherited in an X-linked recessive manner. However, most cases of AIS occur sporadically, without a family history of the condition.

Genetics and Inheritance

AIS is primarily caused by mutations in the androgen receptor gene, but other genes may also be involved in its development. Additional studies are being conducted to learn more about the associated genes and their roles in the condition.

The inheritance of AIS follows an X-linked recessive pattern. This means that the condition is more common in individuals assigned female at birth who have inherited the mutated gene from their carrier mother. Males who inherit the mutated gene will not develop AIS, as they have a Y chromosome carrying the SRY gene, which leads to the development of male sexual characteristics.

Clinical Presentation and Diagnosis

Individuals with AIS typically have normal external female genitalia, but their internal reproductive structures, such as the ovaries and uterus, may be absent or underdeveloped. The severity of the condition can vary, and some individuals may not be aware of their condition until they reach puberty and fail to menstruate or experience breast development.

Diagnosis of AIS involves genetic testing to identify mutations in the androgen receptor gene. This testing can be done during childhood or adulthood and may include additional imaging studies to evaluate internal reproductive structures.

Support and Resources

People diagnosed with AIS and their families can find support and information from various organizations and advocacy groups. The AIS Support Group is a valuable resource that provides educational materials, peer support, and a platform for sharing experiences. The organization also maintains a catalog of scientific articles on AIS.

Additionally, OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed information on genetic conditions, including AIS. PubMed is another useful resource where scientific articles related to AIS can be accessed.

Research and Clinical Trials

Ongoing research on AIS aims to better understand the condition, its causes, and potential treatment options. ClinicalTrials.gov is a reliable platform where individuals can find information on current clinical trials related to AIS. Participating in these trials can provide patients with access to cutting-edge treatments and contribute to the advancement of AIS research.

Further studies are needed to explore the long-term effects of AIS, potential management strategies to enhance fertility, and the psychosocial impact of the condition on affected individuals.

References

Additional information and support can be found at the following resources:

  • Androgen Insensitivity Syndrome Support Group (AISSG). Retrieved from: https://aissg.org/

  • Child Advocacy, Research, and Education (CARES) Foundation. Retrieved from: http://www.caresfoundation.org/

  • ClinicalTrials.gov. (2021). Androgen insensitivity syndrome studies. Retrieved from: https://clinicaltrialsgov/ct2/results?recrs=ab&cond=androgen+insensitivity+syndrome

  • Intersex & Gender Identity. Retrieved from: https://www.intersexandgenderidentity.com/

Note: This list of references is not exhaustive and there may be other relevant resources and scientific articles about this genetic condition.

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