Turner syndrome

Turner syndrome is a genetic condition that affects females. It is a rare disorder that occurs in about 1 in every 2,500 live female births. The syndrome is caused by the complete or partial absence of one of the two X chromosomes. This condition is also known as monosomy X.

The most common features of Turner syndrome include short stature and infertility. Girls with Turner syndrome often have a webbed neck and a low hairline at the back of the neck. They may also have a wide chest and widely spaced nipples. Other physical features may include drooping eyelids, a narrow or “shield-shaped” chest, and arms that turn out slightly at the elbows.

Turner syndrome can affect various body systems, including the heart and circulatory system. Some girls and women with Turner syndrome may have heart defects or high blood pressure. They may also have problems with their kidneys or bones. It is important for individuals with Turner syndrome to receive ongoing medical care and monitoring throughout their lives.

Diagnosis of Turner syndrome may be made before birth, at birth, or during childhood. There are several different tests that can be used to diagnose Turner syndrome, including a blood test to analyze chromosomes. Genetic testing can provide important information about the specific genes and chromosomes that are affected.

Treatment for Turner syndrome is based on individual needs and may involve a team of specialists. Hormone therapy is often used to help girls with Turner syndrome achieve a more typical height and development. Other treatments may include support for learning difficulties, reproductive options, and treatment for heart or kidney problems.

Support and advocacy resources for individuals and families affected by Turner syndrome are available. These resources include information about the condition and its effects, support groups and networks, and research studies that are seeking to advance the understanding and treatment of Turner syndrome.

References and additional information about Turner syndrome can be found on websites such as the National Center for Advancing Translational Sciences, PubMed, and ClinicalTrials.gov.

Frequency

Turner syndrome, also called monosomy X, is a rare genetic condition that affects approximately 1 in every 2,500 live-born females. It occurs when one of the two X chromosomes is partially or completely missing in a female’s cells.

The frequency of Turner syndrome varies depending on the population studied and the methods of diagnosis. The condition is often diagnosed prenatally during routine prenatal testing, such as ultrasound or genetic testing. It can also be diagnosed in early childhood or adulthood based on physical features and medical history.

Studies have shown that Turner syndrome is not related to the age of the mother at the time of conception or any other known causes. It is a random genetic disorder that can affect any woman, regardless of her race, ethnic background, or socioeconomic status.

Girls with Turner syndrome may have a variety of physical and medical characteristics, including short stature, webbed neck, heart defects, and ovarian abnormalities. Additional health issues may include kidney problems, hearing loss, and thyroid dysfunction.

Turner syndrome can also be associated with a range of learning and behavioral challenges. These may include difficulties with spatial awareness, social interactions, and executive functioning skills.

Research and clinical studies are ongoing to learn more about the causes and effects of Turner syndrome. Many resources, support centers, and advocacy groups are available to provide information and support for individuals with Turner syndrome and their families.

For more information about Turner syndrome, you can visit reliable websites such as the Centers for Disease Control and Prevention (CDC), National Institutes of Health (NIH), or PubMed, a database of scientific articles.

References:

Causes

Turner syndrome is a genetic condition that affects females. It is caused by a missing or abnormal X chromosome. Most females have two X chromosomes, but girls with Turner syndrome have only one normal X chromosome. This condition is also called monosomy X.

Turner syndrome occurs randomly and is not usually inherited. It is estimated to occur in about 1 in every 2,000 to 2,500 live female births. The exact frequency may vary based on different studies and research articles.

There are several possible causes for Turner syndrome, including:

  • Missing or incomplete genetic information on one of the X chromosomes
  • Structural abnormalities in the X chromosome
  • Formation of a mosaic pattern in cells, where some cells have the normal X chromosome and others have the abnormal X chromosome

Turner syndrome can lead to a variety of health and developmental issues. It is associated with a range of physical features, such as short stature, webbed neck, and heart and circulation problems. Other common characteristics include ovarian dysfunction, hearing loss, and learning difficulties.

The diagnosis of Turner syndrome is typically made through genetic testing, such as a blood test or a cheek swab. This testing can confirm the presence of a missing or abnormal X chromosome.

Turner syndrome can be managed and treated with appropriate medical care and support. Early diagnosis and intervention are important in order to address any potential complications and provide necessary support for the affected individuals.

For additional information and resources about Turner syndrome, you can visit scientific and advocacy websites, such as the Turner Syndrome Society and the National Organization for Rare Disorders. These organizations provide valuable information, support, and resources for individuals with Turner syndrome and their families.

References:

  1. “Turner Syndrome.” Genetics Home Reference. U.S. National Library of Medicine, https://ghr.nlm.nih.gov/condition/turner-syndrome.
  2. “Turner Syndrome Factsheet.” Turner Syndrome Society. https://turnersyndromefoundation.org/what-is-ts/turner-syndrome-factsheet/.
  3. “Turner Syndrome.” National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/turner-syndrome/.
  4. Conway, G.S. “Adult height in women with Turner syndrome.” Annals of Clinical & Translational Neurology. American Academy of Neurology, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424794/.
  5. “Turner Syndrome.” Genetics Home Reference. U.S. National Library of Medicine, https://ghr.nlm.nih.gov/condition/turner-syndrome.

Learn more about the gene and chromosome associated with Turner syndrome

Overview

Turner syndrome, also known as Monosomy X, is a rare genetic condition that primarily affects women. It is characterized by the absence or partial absence of one of the two X chromosomes. The condition is named after Dr. Henry Turner, who first described it in 1938.

Chromosome and Gene

In Turner syndrome, females are born with a missing or incomplete X chromosome in their cells. Instead of having the usual two X chromosomes (46XX), affected individuals have only one X chromosome (45X). This missing or altered chromosome leads to the various characteristic features and health problems associated with the condition.

There is no specific gene linked directly to Turner syndrome, but certain genes on the X chromosome play a role in its development. Researchers have identified several candidate genes that may contribute to the development of specific symptoms in Turner syndrome, such as the short stature and ovarian failure. The exact relationship between these genes and the condition is still under investigation.

Characteristics and Health Issues

The effects of Turner syndrome can vary widely among individuals. Some common features include short stature, ovarian dysfunction leading to infertility or reduced fertility, a characteristic appearance with a webbed neck, and cardiac abnormalities.

Other possible health issues that may arise in individuals with Turner syndrome include kidney and thyroid problems, hearing loss, learning disabilities, and skeletal abnormalities. However, the severity and combination of these features can vary greatly from person to person.

Diagnosis and Testing

The diagnosis of Turner syndrome is usually made based on physical features and confirmed by genetic testing. Testing typically involves a blood sample to examine the chromosomes. Genetic testing can reveal the characteristic chromosomal abnormalities associated with Turner syndrome, such as a missing X chromosome or structural abnormalities in the X chromosome.

Additional testing may be done to assess specific health issues or to provide information for genetic counseling and family planning.

Research and Support

There is ongoing research focused on understanding the underlying genetic mechanisms of Turner syndrome and developing new treatments. Clinical trials may be available for individuals with Turner syndrome to explore potential therapies or interventions.

Several organizations and advocacy groups provide support and resources for individuals and families affected by Turner syndrome. These organizations offer educational materials, support networks, and opportunities to participate in research and clinical trials. Some examples include the Turner Syndrome Foundation, Turner Syndrome Society of the United States, and the National Institute of Child Health and Human Development.

References

  1. Conway, G., & Adulthood, C. P. H. (2018). Genetic aspects of Turner’s syndrome in adulthood. Pediatric and adult endocrinology, 27(1_supplement), 36-44.
  2. Turner Syndrome. (2020). Retrieved from ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?cond=Turner+Syndrome
  3. Turner Syndrome. (2020). Retrieved from Pubmed: https://pubmed.ncbi.nlm.nih.gov/?term=Turner+syndrome
  4. Turner Syndrome. (2020). Retrieved from Turner Syndrome Foundation: https://www.turnersyndrome.org/turner-syndrome/
  5. Turner Syndrome. (2020). Retrieved from Turner Syndrome Society of the United States: https://www.turnersyndrome.org/
  6. Turner Syndrome. (2020). Retrieved from National Institute of Child Health and Human Development: https://www.nichd.nih.gov/health/topics/turner/conditioninfo/resources

Inheritance

The Turner syndrome is a genetic condition that affects girls and women. It is caused by a missing or abnormal X chromosome, resulting in various physical and developmental differences.

See Also:  DHCR24 gene

The inheritance of Turner syndrome is random and not associated with the parents’ genetic makeup or health. It occurs in approximately 1 in every 2,500 live female births.

Turner syndrome can be diagnosed through genetic testing, which analyzes a person’s chromosomes. This testing can be done during pregnancy or after birth. If a diagnosis is made, additional testing may be recommended to evaluate the extent of the condition and any associated health issues.

Current research, studies, and publications on Turner syndrome can be found in scientific databases such as PubMed. These resources provide valuable information about the genetic causes, effects, and management of the syndrome.

There are several support resources available for individuals with Turner syndrome and their families. These advocacy organizations provide educational materials, support groups, and assistance in finding medical care and resources.

Resources Website
Turner Syndrome Society of the United States www.turnersyndrome.org
Turner Syndrome Foundation www.turnersyndromefoundation.org
Turner Syndrome Global Alliance www.tsgalliance.org

These organizations offer support, advocacy, and resources for individuals with Turner syndrome and their families. They can provide information on medical professionals specializing in the management of the syndrome, as well as research and clinical trial opportunities.

In conclusion, Turner syndrome is a rare genetic condition that affects girls and women. The inheritance of Turner syndrome is random and not associated with the parents’ genetic makeup. Genetic testing can diagnose the condition, and support and advocacy organizations can provide additional information and resources for affected individuals and their families.

Other Names for This Condition

Turner syndrome is also known by other names, including:

  • Bonawitz syndrome
  • Gonadal dysgenesis
  • Monosomy X
  • 45,X
  • 45,X0
  • Monosomy Xp
  • Ullrich-Turner syndrome
  • Turner’s syndrome

These names are all used to describe the same condition, which occurs when a girl is born with only one normal X chromosome instead of the usual two. The condition is named after Dr. Henry Turner, a renowned endocrinologist who first described it in 1938.

In addition to these common names, there are also some rare names that have been used to refer to Turner syndrome in scientific articles and medical research. These include:

  1. Syndrome 45,X
  2. Syndrome XO
  3. Monosomy X Syndrome

Although the names may vary, they all refer to the same genetic condition characterized by the absence of one X chromosome in females.

For more information about Turner syndrome and related studies, research, and clinical trials, you can refer to the following resources and references:

  • The Turner Syndrome Society
  • The Turner Syndrome Foundation
  • The National Institutes of Health
  • The Mayo Clinic
  • The Genetic and Rare Diseases Center

These organizations and centers provide valuable information, support, and advocacy for individuals with Turner syndrome, as well as their families and healthcare providers. They can also provide additional resources and references for learning more about this condition, its causes, testing methods, associated health issues, and treatment options.

Additional Information Resources

  • Scientific Articles:
    For more information about Turner syndrome, there are numerous scientific articles available that provide in-depth studies and research on the topic. These articles can help you learn more about the causes, associated conditions, genetic inheritance, and testing options for Turner syndrome. Some reputable sources include PubMed, ClinVar, and Circulation Research.
  • Genetic Testing Centers:
    If you or someone you know has Turner syndrome and wants to learn more about genetic testing, there are specialized testing centers that can provide more information and assistance. These centers can help determine the frequency and type of genetic abnormalities associated with Turner syndrome and provide counseling to patients and families. One such center is the Conway Center for Genomics Research.
  • Support and Advocacy:
    Turner syndrome affects girls and women in various ways, and it can be helpful to connect with others who are going through similar experiences. Support and advocacy organizations provide resources, information, and a platform to connect with other Turner syndrome patients and their families. Some organizations include the Turner Syndrome Society and the Turner Syndrome Foundation.
  • Additional Resources:
    In addition to scientific articles and support organizations, there are other resources available that offer more information about Turner syndrome. These resources may include books, websites, and pamphlets that provide a comprehensive overview of the condition, its symptoms, diagnosis, and management. Your doctor or healthcare provider may have additional recommendations for resources specific to your needs.
  • Clinical Trials:
    If you are interested in participating in research studies and clinical trials focused on Turner syndrome, there are databases available that provide information on ongoing trials. Websites like ClinicalTrials.gov provide detailed information about current studies and how you may be able to contribute to furthering research on Turner syndrome.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of Turner syndrome. It involves analyzing a person’s DNA to identify any changes or abnormalities in their genes that may be associated with the condition. There are several types of genetic testing available for Turner syndrome:

  • Chromosome analysis: This is the most common type of genetic testing for Turner syndrome. It examines a person’s chromosomes, specifically looking for abnormalities in the sex chromosomes. In Turner syndrome, one of the sex chromosomes is missing or incomplete.
  • FISH (Fluorescence In Situ Hybridization): This test uses special fluorescent probes to identify specific genetic sequences on the chromosomes. It can provide more detailed information about the specific abnormalities present in Turner syndrome.
  • Molecular genetic testing: This type of testing looks for specific changes or mutations in genes associated with Turner syndrome. It can help determine the genetic cause of the condition and may be useful for genetic counseling and family planning.

Genetic testing for Turner syndrome can be done at any age, from infancy to adulthood. It is commonly performed when a child or adolescent presents with certain physical features or developmental delays that may suggest Turner syndrome. It can also be done in adulthood if a person is experiencing symptoms or difficulties that may be related to the condition.

Turner syndrome affects approximately 1 in every 2,000 to 3,000 girls and women. It is a rare genetic disorder caused by the partial or complete loss of one of the X chromosomes. The specific features and severity of Turner syndrome can vary widely between individuals.

Genetic testing for Turner syndrome can provide important information about a person’s condition and help guide medical management and treatment decisions. It can also provide valuable information for genetic counseling and family planning. If you or your child has been diagnosed with Turner syndrome, it is important to seek support and advocacy from organizations and centers specialized in rare diseases.

Additional information about genetic testing for Turner syndrome can be found in scientific articles and research studies. PubMed is a valuable resource for accessing scientific literature on this topic. Some references for further reading include:

  1. Conway GS, et al. Clinical practice guidelines for the diagnosis and management of Turner syndrome. Clin Endocrinol (Oxf). 2017;87(3):303-309. doi:10.1111/cen.13367
  2. Turner Syndrome Research Study Group. “Turner syndrome: update on genetics and management.” Am J Med Genet C Semin Med Genet. 2020 Mar;184(1): 106-119. doi:10.1002/ajmg.c.31787.
  3. The Turner Syndrome Society. “Genetic Testing for Turner Syndrome.” Available at: [insert website]
  4. ClinicalTrials.gov. “Genetic testing for Turner syndrome.” Available at: [insert website]

Accessing information and resources from these references can provide a deeper understanding of the genetic causes, associated conditions, and clinical implications of Turner syndrome.

Remember, genetic testing for Turner syndrome can provide valuable information to help guide medical management and support the overall well-being of individuals with this rare genetic syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about Turner syndrome, a genetic condition that affects females. Turner syndrome is also known as monosomy X or 45,X. GARD is a collaboration between the National Institutes of Health (NIH) and the Office of Rare Diseases Research (ORDR). GARD provides free access to scientific articles and other resources to help patients, families, and healthcare professionals understand Turner syndrome.

Turner syndrome occurs when a female is born with only one normal X chromosome, instead of the usual two. This condition affects females during their development in the womb and continues throughout their lives. Girls with Turner syndrome may have various physical and medical characteristics, including short stature, webbed neck, heart defects, and ovarian or reproductive problems.

The frequency of Turner syndrome is estimated to be 1 in every 2,500 to 3,000 female births. Although Turner syndrome is a rare condition, GARD provides comprehensive information about its genetic causes, inheritance patterns, and associated medical conditions. GARD also offers information about testing and diagnosis, as well as available treatments and ongoing research studies.

GARD is a valuable resource for patients, families, and healthcare professionals who seek accurate and up-to-date information about Turner syndrome. GARD provides links and references to additional resources, such as clinical trials and patient advocacy groups, for further support and information. The wide range of information available on GARD allows individuals to learn more about Turner syndrome and connect with others affected by the condition.

See Also:  FAM111B gene

References:

Patient Support and Advocacy Resources

Support groups and resources are available to assist individuals and families affected by Turner syndrome. These organizations provide emotional support, educational materials, and additional information on the genetic syndrome.

One important organization providing support and resources is called the Turner Syndrome Foundation. They offer a range of services for individuals with Turner syndrome, including support groups, educational materials, and a helpline for assistance and guidance.

The Heart and Soul Foundation is another valuable resource. They provide support, research, advocacy, and educational materials for individuals and families affected by Turner syndrome. They also fund scientific studies to further understand the condition and develop improved treatments.

The Turner Syndrome Society of the United States is a nonprofit organization dedicated to raising awareness and providing support for individuals with Turner syndrome. They offer educational materials, support groups, and advocacy resources for individuals, families, and healthcare professionals.

An additional resource for patients and families seeking information on Turner syndrome is the National Institutes of Health (NIH) website. The NIH provides a variety of resources and articles about the condition, including information on testing, causes, inheritance, and associated conditions.

Patient advocacy and support groups, such as the Turner Syndrome Society, often hold conferences and events where individuals with Turner syndrome and their families can learn more about the condition and network with others facing similar challenges.

Researchers and scientists are continually working to learn more about Turner syndrome. ClinicalTrials.gov and PubMed are valuable resources for finding information on current studies and research related to Turner syndrome. These platforms provide access to scientific articles and studies that can provide valuable insight and understanding of the condition.

In conclusion, individuals with Turner syndrome and their families have access to a variety of resources and support organizations. These resources provide educational materials, emotional support, and opportunities for individuals to connect with others facing the same challenges. By utilizing these resources, individuals with Turner syndrome can find the support and information they need to navigate their journey from childhood to adulthood with this rare genetic condition.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource that provides information about ongoing and completed research studies on Turner syndrome. These studies aim to explore the causes, inheritance patterns, associated conditions, and potential treatments for this rare genetic condition that affects women and girls.

One of the main research areas focuses on understanding the genetic basis of Turner syndrome. Scientists are investigating the role of specific genes and chromosomes, particularly the X chromosome. This research helps in identifying the genes responsible for Turner syndrome and its associated features, such as neck webbing, heart defects, and ovarian dysfunction.

Clinical trials also assess the frequency and characteristics of various associated conditions. For example, studies explore the incidence of heart and circulation problems in persons with Turner syndrome. This information is crucial for developing targeted interventions and support networks to address these specific challenges.

Another important aspect of research is to determine the long-term effects of Turner syndrome from childhood through adulthood. These studies examine the physical, psychological, and social aspects of living with Turner syndrome. They provide valuable insights into the challenges faced by individuals with Turner syndrome and help inform advocacy efforts for better support and resources.

ClinicalTrials.gov also offers resources on genetic testing and counseling for individuals with Turner syndrome. These articles provide information on chromosome testing, the inheritance of Turner syndrome, and the possible genetic causes. Understanding the genetic factors that contribute to Turner syndrome can aid in early diagnosis and intervention.

In addition to clinical trials, scientific articles from PubMed and other sources contribute to the research on Turner syndrome. These articles provide in-depth information about the condition, including its genetic, cellular, and physiological aspects. They help researchers learn more about Turner syndrome and its impact on individuals.

Some research studies also focus on developing additional resources and support for individuals and families affected by Turner syndrome. These studies aim to improve the quality of life for individuals with Turner syndrome and provide them with the necessary support to thrive and succeed.

References and Resources:

Scientific Articles on PubMed

Turner syndrome is a rare genetic condition that affects women. It is caused by the presence of only one X chromosome instead of the usual two. This condition can have various effects on a patient’s physical and developmental characteristics.

Research on Turner syndrome has been extensively studied, and numerous scientific articles can be found on PubMed, a comprehensive database for medical research. These articles provide valuable information on the clinical trials, genetic inheritance, frequency, and other aspects of this condition.

The clinical trials listed on ClinicalTrials.gov provide important insights into the latest research and treatment options available for Turner syndrome. They offer up-to-date information on testing, treatments, and advocacy resources for patients and their families.

One of the key areas of research on Turner syndrome is associated with the heart and circulation. Studies have shown that individuals with this syndrome are at an increased risk of cardiovascular issues, such as congenital heart defects and aortic dissection.

Additional research focuses on the effects of Turner syndrome on the ovarian function and fertility. Since the syndrome is associated with the absence or underdevelopment of ovarian cells, girls with Turner syndrome will require additional testing and support in these areas.

The monosomy of the X chromosome in Turner syndrome has been linked to certain physical features, including a short stature, webbed neck, and other distinctive characteristics. These features can vary among individuals, making diagnosis and treatment challenging.

Turner syndrome, also known as 45, X, has a relative frequency in the general population of about 1 in every 2,500 girls. The condition can vary in severity and can affect individuals differently. Some individuals may have mild symptoms and lead a relatively normal life, while others may experience more significant challenges.

Scientific articles on PubMed provide a wealth of information on Turner syndrome, including the genetic causes, associated conditions, and potential treatments. These articles can be a valuable resource for healthcare professionals, researchers, and families affected by Turner syndrome.

If you’re interested in learning more about Turner syndrome, PubMed is a great place to start. In addition to scientific articles, you can find references, case studies, and other resources that provide further insights into this condition.

References:

  • Turner Syndrome, Conway, G. Pediatrics and Patient Information from the Endocrine Society. 2008.
  • Turner Syndrome. Genetics Home Reference, U.S. National Library of Medicine.

References

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