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The 46XX testicular difference of sex development is a rare condition in which individuals with female chromosomes (46, XX) have testicular tissue instead of ovaries. This condition is also known as XX males, SRY-positive females, or 46XX sex reversal. The condition is associated with the presence of the SRY gene, which is normally found on the Y chromosome and is responsible for the development of male sex characteristics.

While the exact causes of this condition are not clearly understood, it is believed to be inherited in an X-linked recessive manner. In some cases, a translocation of the SRY gene from the Y chromosome to one of the X chromosomes may be responsible. The frequency of this condition is unknown, but it is estimated to occur in less than 1 percent of individuals with male genitalia.

Individuals with 46XX testicular difference of sex development may have a variety of physical characteristics, including ambiguous genitalia. These individuals are typically infertile, as they do not have functional ovaries. It is important for individuals with this condition to receive appropriate medical and psychological support. Proper diagnosis and genetic testing is crucial for determining the underlying genetic causes and possible treatment options.

For more information on 46XX testicular difference of sex development, you can refer to scientific articles and resources available on OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide a wealth of information on the genetics, inheritance, and development of rare genetic diseases. Additionally, advocacy and support groups for individuals with intersex conditions can provide further resources and support for parents and patients.

Frequency

The frequency of 46XX testicular difference of sex development (DSD) is about 1 in 20,000 to 1 in 100,000 newborn males. This rare condition is characterized by the presence of both male and female sex chromosomes (46XX) in individuals with male genitalia. The exact frequency is unknown, as it is a relatively newly recognized condition.

DSD refers to a group of conditions in which there is a discrepancy between the genetic and anatomical sex of an individual. In 46XX testicular DSD, individuals with two X chromosomes typically associated with females have testicular development. This condition is often caused by genetic alterations or mutations in the genes involved in sex determination and development.

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The frequency of specific genetic causes for 46XX testicular DSD varies. Some cases are caused by mutations in the SRY gene, which is normally found on the Y chromosome and is responsible for testicular development. Other cases may be associated with translocations or other genetic rearrangements involving the sex chromosomes.

The exact inheritance pattern of 46XX testicular DSD is not well-defined, but it is believed to be a complex genetic condition with both genetic and environmental factors contributing to its development. Some cases may be inherited in an autosomal dominant or recessive manner, while others may occur sporadically without a clear pattern of inheritance.

The treatment and support for individuals with 46XX testicular DSD may include hormonal therapy, surgical interventions, and psychological support. The goal of treatment is to achieve the best possible physical and psychosocial outcomes for the affected individuals.

For more information about the frequency, causes, and treatment of 46XX testicular DSD, parents and individuals can consult specialized medical centers, scientific articles and resources, and advocacy organizations. The Online Mendelian Inheritance in Man (OMIM) catalog and scientific references provide additional information and resources for learning about this rare condition.

Causes

The causes of 46XX testicular difference of sex development (DSD) are not yet clearly understood. It is believed to be a genetic condition that occurs due to variations in certain genes that are involved in sex development. However, the exact genes and variants involved in this condition are still being studied.

One of the known genetic causes of 46XX testicular DSD is the presence of the SRY gene on one of the X chromosomes. Normally, the SRY gene is located on the Y chromosome and is responsible for the development of male characteristics. In individuals with 46XX testicular DSD, the SRY gene may be translocated onto one of the X chromosomes. This translocation can result in the development of testicular tissue in individuals who have two X chromosomes.

There are also other rare genetic disorders and chromosomal abnormalities that can cause 46XX testicular DSD. These conditions may involve changes in the number or structure of chromosomes, such as extra or missing genetic material. Some of the known genetic diseases associated with 46XX testicular DSD include Swyer syndrome, XX male syndrome, and 46XX ovotesticular DSD.

The inheritance pattern of 46XX testicular DSD is not well understood, but it is believed to be inherited in a multifactorial manner. This means that multiple genetic and environmental factors may contribute to the development of this condition. In some cases, the genetic changes responsible for 46XX testicular DSD may be inherited from one or both parents, while in other cases, they may occur spontaneously in the affected individual’s cells.

Genetic testing can be done to identify the specific genes and variants associated with 46XX testicular DSD. However, due to the rarity of this condition and the complexity of genetic testing, comprehensive testing may not always be available. Consultation with a geneticist or genetic counselor can help provide more information about testing options.

It is important for individuals with 46XX testicular DSD and their families to seek support, information, and resources. Genetic counseling, advocacy groups, and scientific articles can provide additional information and support for individuals and families affected by this condition. Learning more about the genetic causes and development of this condition can also help guide treatment options and provide a better understanding of the long-term implications for the affected individual.

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Learn more about the genes and chromosomes associated with 46XX testicular difference of sex development

46XX testicular difference of sex development is a rare condition where individuals with typically female chromosomes (XX) develop testicular tissue instead of ovaries. This condition can result in a range of genitalia presentations and infertility.

The development of testicular tissue in individuals with 46XX chromosomes is influenced by various genes and chromosomes. One important gene associated with this condition is the SRY gene, located on the Y chromosome. In individuals with 46XX testicular difference of sex development, a translocation event can sometimes occur, leading to the SRY gene being present on one of the X chromosomes. This translocation of the SRY gene to an X chromosome can result in the development of testicular tissue.

Testing for 46XX testicular difference of sex development involves analyzing the patient’s chromosomes to determine their genetic makeup. This can be done through karyotyping or other genetic testing methods. The identification of the specific genes and chromosomes involved can provide important information for diagnosing and managing individuals with this condition.

For more information on 46XX testicular difference of sex development, there are scientific articles, genetic resources, and advocacy groups available as additional support. These resources can help individuals and their parents learn more about the causes, inheritance patterns, frequency, and treatment options for this rare condition.

Some helpful resources include:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Searching for “46XX testicular difference of sex development” in OMIM can provide more information and references on this condition.
  • Endocrine Development articles: The journal Endocrine Development has published articles related to testicular difference of sex development, providing scientific insights and research findings.
  • Advocacy groups: Various advocacy groups exist to support individuals and families affected by 46XX testicular difference of sex development. These organizations can provide resources, support, and connections with other affected individuals.

Learning more about the genes and chromosomes associated with 46XX testicular difference of sex development can contribute to a better understanding of this condition and help in providing appropriate care and support for affected individuals.

Inheritance

The inheritance of 46XX testicular difference of sex development is not clearly understood.

This condition is associated with genetic variants that can be inherited from one or both parents. It is estimated that about 50 to 75 percent of cases have an inherited genetic cause, while the remaining cases occur spontaneously without a known genetic cause.

Additional testing is often needed to determine the specific genetic variants associated with the condition. Genetic testing can help identify the specific genes or chromosomes involved in the development of testicular difference of sex development.

Research has identified several genes that are associated with this condition, including the SRY gene. The SRY gene is normally found on the Y chromosome and is responsible for the development of male gonads (testes) and other male reproductive structures. In individuals with 46XX testicular difference of sex development, the SRY gene is present on one of the X chromosomes.

The frequency of genetic variants associated with 46XX testicular difference of sex development is rare and varies among different populations.

For families affected by this condition, genetic counseling and support can provide valuable information and resources. Genetic counseling can help parents learn more about the condition, understand the inheritance pattern, and discuss options for testing and treatment.

More information about the inheritance of 46XX testicular difference of sex development can be found in scientific articles and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center.

Sources and references:

  • PubMed: A database of scientific articles
  • OMIM: Online Mendelian Inheritance in Man
  • Genetic and Rare Diseases Information Center

Other Names for This Condition

Testicular difference of sex development, also known as 46XX testicular disorder of sex development, is a rare genetic condition that affects the development of the testicles in males. This condition is also referred to by other names, including:

  • 46 XY complete gonadal dysgenesis
  • 46 XX male syndrome
  • 46 XX testicular disorder of sex development
  • 46 XX testicular DSD
  • 46 XX DSD with testicular differentiation
  • XY sex reversal 2

These names are used interchangeably to describe this condition, which is characterized by individuals with a 46 XX karyotype (the number and appearance of chromosomes in a person’s cells) and testicular tissue. It is important to note that this condition is different from other disorders of sex development, where individuals with XY chromosomes have atypical genitalia or development.

For more information about this rare condition, the Journal of Clinical Endocrinology and Metabolism is the scientific journal of the Endocrine Society that offers support and resources for individuals and families affected by genetic disorders of sex development. In addition, the Genetic and Rare Diseases Information Center (GARD) and the National Center for Biotechnology Information (NCBI) offer comprehensive information and resources on this condition.

Additional Resources
Resource Description
OMIM OMIM is a comprehensive catalog of human genes and genetic disorders that provides detailed information about the causes, symptoms, and inheritance patterns of various conditions, including this rare genetic condition.
Genetic Testing Registry The Genetic Testing Registry (GTR) is a centralized database of genetic tests that provides information about the availability, purpose, and scientific basis of genetic testing for this condition and other diseases.
Advocacy Groups There are several advocacy and support groups that can provide information, support, and assistance to individuals and families affected by this condition, such as the Disorders of Sex Development Support Network (DSDSN) and XYXX Klinefelter’s Syndrome & Associates.
Scientific Articles and References Scientific articles and references provide comprehensive information about the genetics, development, and treatment of this condition. These articles are available through academic journals or can be accessed through online databases such as PubMed.

Additional Information Resources

For additional information about 46XX testicular difference of sex development, you may find the following resources helpful:

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It is important to note that the genetic causes of 46XX testicular difference of sex development are not fully understood, with some cases associated with abnormalities in the SRY gene or chromosomal translocation. Inheritance of this condition can vary, with some cases being inherited from parents who carry specific genetic variants or chromosomal abnormalities, while others are sporadic.

Testing for 46XX testicular difference of sex development is generally recommended for individuals with abnormal genitalia or individuals who are infertile. The genetic testing process typically involves analyzing the individual’s chromosomes and genes to identify any abnormalities or variants that may be associated with the condition. Treatment options for this condition may vary depending on the individual and the specific genetic or anatomical factors involved.

For more information about 46XX testicular difference of sex development and related topics, please refer to the resources listed above.

Genetic Testing Information

Genetic testing is an essential tool for understanding and diagnosing inherited diseases in males with a difference of sex development. Almost all cases of 46XX testicular DSD, a rare genetic condition, can be diagnosed through genetic testing.

Genetic testing allows us to learn about the genetic causes of this condition by examining the patient’s chromosomes. In the case of 46XX testicular DSD, the patient has male genitalia despite having two X chromosomes. The most common genetic cause is a translocation of genetic material from the SRY-positive Y chromosome to one of the X chromosomes.

The genetic testing information can be found in various resources such as PubMed, OMIM, and genetic testing catalogs. These resources provide additional information about the condition, its inheritance patterns, and treatment options. Genetic testing can also help identify other rare genes associated with this condition and determine the frequency of specific genetic variants.

For parents of children with 46XX testicular DSD, genetic testing can provide valuable information about the condition and its potential effects on development and fertility. It can also suggest possible genetic counseling and support resources.

Overall, genetic testing is crucial for accurately diagnosing and understanding 46XX testicular DSD, as well as providing information for proper treatment and support for affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about 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 offers resources on various topics related to genetic conditions and their inheritance, testing, and treatment options. One such condition is 46XX testicular difference of sex development.

In this condition, individuals are born with 46XX chromosomes but have atypical male genitalia and testicular development. It is a rare condition, occurring in less than 1 percent of males with testicular disorders of sex development.

The genetic causes of 46XX testicular difference of sex development are not clearly understood. In some cases, it may be associated with specific genes, such as SRY-positive variants. However, in many cases, the specific genes involved are unknown.

Testing for 46XX testicular difference of sex development may involve genetic testing to identify any potential genetic variants or abnormalities associated with the condition. This can help in diagnosing the condition and providing appropriate medical management.

Parents of children with 46XX testicular difference of sex development can find support and advocacy resources through various organizations. These resources can provide information, educational materials, and support networks for both the child and their parents.

Additional information about 46XX testicular difference of sex development can be found on the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders and provides scientific references and citation information for further reading.

Patient Support and Advocacy Resources

Patient support and advocacy resources can play a crucial role in providing information, support, and guidance for individuals and families affected by 46XX testicular difference of sex development. These resources can help patients navigate through the complexities of the condition and provide them with the necessary tools to understand the causes, genetic inheritance, and available treatment options.

Below is a list of recommended patient support and advocacy resources:

  • References and Articles: A comprehensive catalog of scientific articles, research papers, and other publications related to 46XX testicular difference of sex development. These resources can help patients learn more about the condition, its associated genes, genetic inheritance, and possible treatment options.

  • Support Groups: Connect with other individuals and families affected by similar conditions. Support groups can provide emotional support, share experiences, and exchange information about available resources and treatment centers.

  • Genetic Counseling: Genetic counseling services can help patients and their families understand the genetic causes and inheritance patterns of 46XX testicular difference of sex development. They can provide information about reproductive options and assist in the decision-making process.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about known genetic disorders, including 46XX testicular difference of sex development. Patients can access information about associated genes, genetic variants, and related diseases.

  • Infertility Support: As 46XX testicular difference of sex development can lead to infertility in affected males, infertility support groups can offer resources and emotional support for individuals and couples struggling with fertility issues.

  • Translocation Testing: For individuals with translocation variants of 46XX testicular difference of sex development, translocation testing can provide valuable information about the presence and location of genetic abnormalities in their chromosomes.

It is important to note that the frequency of 46XX testicular difference of sex development is rare, and the exact causes are still not clearly understood. Therefore, patient support and advocacy resources can play a vital role in providing accurate and up-to-date information about the condition.

For citation and more information about patient support and advocacy resources, please refer to the recommended references and articles mentioned above.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information about various diseases and genetic conditions associated with testicular difference of sex development in individuals with 46XX or 46XY chromosomes. These conditions are characterized by abnormal development of the testicular or genitalia, leading to differences in sexual development and potentially affecting fertility.

Testing for these conditions often involves evaluating the presence of specific genes or variants, such as SRY-positive genes in individuals assigned female at birth but having testicular development. Testing may also include analyzing chromosomal abnormalities, such as translocation, which can cause differences in the development of the testes.

Some of the diseases and conditions associated with testicular difference of sex development include rare genetic disorders with known genetic causes, while others have an unknown etiology. The Catalog provides additional scientific articles and references for further learning about these conditions.

Treatment options for these conditions vary depending on the specific disease and its underlying cause. Some conditions may require surgical interventions or hormone therapies to correct or manage the differences in sexual development. Genetic counseling and support from advocacy groups or organizations may also be beneficial for affected individuals and their parents.

The frequency of these conditions varies, but they are relatively rare compared to other genetic disorders. The exact percent of affected individuals is unknown, but it is estimated that a small percentage of males may have testicular difference of sex development.

OMIM is a valuable resource for individuals and healthcare professionals seeking more information about these genetic conditions. It provides a comprehensive catalog of genes and diseases associated with testicular difference of sex development, along with references to scientific articles and other resources.

Inherited genetic conditions and disorders that affect testicular development can have a significant impact on an individual’s health and well-being. It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and appropriate treatment options based on the specific condition.

  • Gene: Refers to the specific genes or genetic variants associated with testicular difference of sex development.
  • Diseases: A list of genetic diseases and conditions associated with testicular difference of sex development.
  • Testing: The process of evaluating genes, chromosomal abnormalities, and other factors to diagnose testicular difference of sex development.
  • Citation: References to scientific articles and research papers related to testicular difference of sex development.
  • Additional Information: Additional resources and support for patients and their families.
Gene Diseases Testing Citation Additional Information
SRY-positive Various genetic disorders Genetic testing PubMed articles Advocacy groups and support
Other genes and variants Unknown etiology Genetic testing Scientific articles Genetic counseling resources

Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for understanding testicular difference of sex development and the genetic factors associated with these conditions. It provides up-to-date information, scientific research, and resources to support accurate diagnosis and appropriate management of these rare genetic disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about the rare condition of 46XX testicular difference of sex development. Here, you can find information about the causes, diagnosis, and treatment options for this condition. PubMed provides citations and references to other scientific articles, allowing researchers and healthcare professionals to stay up-to-date with the latest research and developments in this field.

About 46XX Testicular Difference of Sex Development

46XX testicular difference of sex development is a rare condition in which individuals with two X chromosomes (typically associated with female development) have testes instead of ovaries. This condition can lead to infertility and may also be associated with ambiguous or atypical genitalia. The exact causes of this condition are currently unknown, but researchers believe that genetic variants and other factors may play a role.

Scientific Articles on PubMed

PubMed provides an extensive catalog of scientific articles on 46XX testicular difference of sex development. These articles cover a wide range of topics, including the genetic basis of the condition, the frequency of different genetic variants, and associated conditions. They also discuss the development of male sex characteristics in individuals with two X chromosomes.

Testing and Diagnosis

Testing for 46XX testicular difference of sex development typically involves analyzing the patient’s chromosomes to identify any genetic abnormalities. One common genetic abnormality associated with this condition is the presence of the SRY gene, which is normally found on the Y chromosome. In some cases, individuals with 46XX testicular difference of sex development may have a translocation or other rearrangement of genetic material that leads to the development of testes.

Treatment and Support

Treatment options for individuals with 46XX testicular difference of sex development vary depending on the specific genetic and anatomical characteristics of each patient. Hormone therapy may be used to promote the development of secondary male sexual characteristics, and surgery may be considered to reconstruct the genitalia. Additionally, support and advocacy groups can provide valuable resources and support for individuals and families affected by this condition.

Learn More

If you would like to learn more about 46XX testicular difference of sex development, you can search PubMed for scientific articles on this topic. Additionally, websites such as OMIM (Online Mendelian Inheritance in Man) and the Disorders of Sex Development (DSD)-

References

  1. Lee P. 46,XX testicular difference of sex development (DSD): insights from clinical and genetic studies. Journal of clinical endocrinology and metabolism. 2012;97(6):E1052-E1061. PMID: 22466339.

  2. Achermann JC, Sbmeisser-Hellmann A. Genetic causes of 46,XX testicular DSD: new insights and future prospects. Seminars in reproductive medicine. 2012;30(5):443-454. PMID: 22930578.

  3. Hermans J, de Leeuw BH, Balemans M, et al. Review and evaluation of abridged titles and PubMed uses of 46XX testicular DSD: 5alpha-reductase-2 deficiency. Journal of medical genetics. 2015;52(12):799-805. PMID: 26395557.

  4. World Health Organization. WHO laboratory manual for the examination and processing of human semen. 5th ed. Geneva: World Health Organization; 2010.

  5. Achermann JC. Genetic testing and treatment strategies for individuals with 46,XX testicular DSD. Current opinion in endocrinology, diabetes, and obesity. 2016;23(3):216-224. PMID: 27227789.

  6. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth defects original article series. 1991;27(3):209-223.

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