Turner Syndrome
Disease Details
Family Health Simplified
- Description
- Turner syndrome is a genetic disorder affecting females where one of the X chromosomes is missing or partially missing, leading to developmental abnormalities and infertility.
- Type
- Turner syndrome is a chromosomal disorder. It is typically not inherited but occurs due to a random genetic event. This condition results from the complete or partial absence of one of the two X chromosomes in females, usually described as 45,X.
- Signs And Symptoms
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Signs and symptoms of Turner syndrome vary but commonly include:
1. Short stature
2. Delayed puberty
3. Infertility
4. Heart defects
5. Kidney malformations
6. Webbed neck
7. Low-set ears
8. Broad chest with widely spaced nipples
9. Swelling of the hands and feet (lymphedema)
10. Skeletal abnormalities
11. Learning disabilities, particularly in spatial concepts and math
Turner syndrome only affects females, as it is related to the partial or complete loss of one of the X chromosomes. - Prognosis
- Turner syndrome is a chromosomal disorder affecting females, characterized by the partial or complete absence of one X chromosome. Prognosis varies widely among individuals. With appropriate medical care and interventions, including hormone therapy and fertility treatments, individuals with Turner syndrome can lead relatively normal lives. Lifespan may be slightly reduced due to associated health conditions such as heart problems, diabetes, or hypothyroidism, but overall quality of life can be good with proper management. Regular monitoring and supportive care are crucial for improving outcomes.
- Onset
- Turner syndrome is a genetic disorder that is typically present from birth (congenital). It occurs exclusively in females and results from the complete or partial absence of one of the two X chromosomes. The onset is congenital, meaning it is evident at birth or can often be detected prenatally through genetic testing.
- Prevalence
- Turner syndrome occurs in approximately 1 in 2,500 live female births.
- Epidemiology
- Turner syndrome occurs in between one in 2000 and one in 5000 females at birth.Approximately 99 percent of fetuses with Turner syndrome spontaneously terminate during the first trimester. Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States.
- Intractability
- Turner syndrome is not considered intractable; it is a manageable genetic condition. While there is no cure for Turner syndrome, various treatments and interventions can address many of the health issues associated with it. These can include hormone therapy, growth hormone treatment, and specific medical care for related health problems like heart defects, hypertension, and hearing loss. Early diagnosis and tailored care can significantly improve the quality of life for individuals with Turner syndrome.
- Disease Severity
- Turner syndrome is a genetic condition affecting females, characterized by the partial or complete absence of one of the two X chromosomes. Its severity can vary among individuals. Some common health issues associated with Turner syndrome include short stature, heart defects, infertility, and certain learning disabilities. Management of the condition often involves a multidisciplinary approach, including hormone therapies, surgeries, and educational support. While Turner syndrome can lead to various health challenges, many individuals with the condition can lead healthy and fulfilling lives with proper medical care and support.
- Healthcare Professionals
- Disease Ontology ID - DOID:3491
- Pathophysiology
- Turner syndrome primarily affects females and is characterized by the partial or complete absence of one X chromosome (45,X karyotype). The pathophysiology involves the loss of genetic material from the X chromosome, leading to disruptions in the development of gonads and secondary sexual characteristics. This can result in short stature, infertility, and various physical anomalies such as webbed neck and low-set ears. Cardiovascular and renal abnormalities, as well as an increased risk of autoimmune disorders, are also common. The specific symptoms and severity can vary depending on the extent and location of the chromosomal abnormalities.
- Carrier Status
- Turner syndrome is a chromosomal disorder that affects females, where one of the X chromosomes is partially or completely missing (45,X karyotype). Carrier status does not apply to Turner syndrome because it is not an inherited condition but rather a random chromosomal error. The term "carrier" typically refers to individuals who carry one copy of a mutated gene that can be passed to offspring, which is not relevant in the case of Turner syndrome.
- Mechanism
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Turner Syndrome is a genetic disorder affecting females, characterized by the partial or complete absence of one of the two X chromosomes. This condition is most commonly due to monosomy X, where only one X chromosome is present (45,X karyotype).
**Mechanism:**
- **Genetic Basis:** Turner Syndrome primarily arises from a nondisjunction event during the formation of reproductive cells (meiosis) that results in an egg or sperm cell lacking an X chromosome. When such a gamete fuses with a normal gamete, the resulting zygote has only one X chromosome.
- **Mosaicism:** In some cases, Turner Syndrome can occur due to mitotic errors after fertilization, leading to a mix of normal cells and cells with only one X chromosome (mosaic Turner Syndrome).
**Molecular Mechanisms:**
1. **Loss of SHOX Gene Function:** The SHOX (Short Stature Homeobox) gene, located on the X chromosome, plays a crucial role in bone development. Its haploinsufficiency (having only one functional copy) is believed to contribute to the short stature and skeletal abnormalities observed in Turner Syndrome.
2. **Gene Dosage Effect:** The absence of a second X chromosome leads to the lack of expression of genes that are normally present in two copies in females. This affects various systems in the body, contributing to the broad spectrum of symptoms including cardiovascular anomalies and infertility.
3. **Epigenetic Changes:** The single X chromosome in Turner Syndrome may also undergo epigenetic alterations affecting gene expression. This can modify biological pathways and contribute to the variable expressivity of the syndrome.
Understanding these mechanisms helps in diagnosing and managing Turner Syndrome more effectively. - Treatment
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As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms. While most of the physical findings are harmless, significant medical problems can be associated with the syndrome. Most of these significant conditions are treatable with surgery and other therapies including hormonal therapy.
Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans. There is evidence that this is effective, even in toddlers. A 2019 systematic review comparing effects of adding oxandrolone to growth hormone treatment to growth hormone alone has found moderate-quality evidence that the addition of oxandrolone leads to an increase in final adult height of girls with Turner syndrome. When the same review assessed the effects of adding Oxandrolone to growth hormone treatment on speech, cognition and psychological status, the results were inconclusive due to very-low quality evidence.
Estrogen replacement therapy such as the birth control pill, has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are crucial for maintaining good bone integrity, cardiovascular health and tissue health. Women with Turner syndrome who do not have spontaneous puberty and who are not treated with estrogen are at high risk for osteoporosis and heart conditions.
Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.
Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy. - Compassionate Use Treatment
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Turner syndrome (TS) is a genetic disorder characterized by the complete or partial absence of one X chromosome in females.
**Compassionate Use Treatment:**
Compassionate use, also known as expanded access, involves providing experimental drugs to patients outside of clinical trials when no comparable or satisfactory alternative treatments are available:
- Compassionate use may be considered for severe complications of TS, such as certain cardiovascular or renal issues, when conventional treatments are insufficient.
**Off-Label or Experimental Treatments:**
1. **Growth Hormone Therapy:**
- **Off-label**: Already a standard treatment for promoting height growth in TS, but may be prescribed in combination with other therapies not specifically approved for TS.
2. **Oxandrolone:**
- An anabolic steroid sometimes used off-label in conjunction with growth hormone to improve height outcomes.
3. **Estrogen Replacement Therapy:**
- Initiated to induce and maintain secondary sexual characteristics and support bone health. While standard, the nuances of timing and dosage might be tailored beyond approved guidelines.
4. **In Vitro Fertilization (IVF) with Donor Eggs:**
- Used for fertility issues in TS patients, as many women with TS are infertile due to underdeveloped ovaries.
5. **Cardiovascular Monitoring and Interventions:**
- Regular cardiovascular check-ups are critical, and experimental treatments or off-label use of medications may be applied to manage aortic dilation or hypertension.
Experimental therapies and customized off-label uses should always be discussed and monitored closely by a healthcare practitioner specializing in Turner syndrome or related genetic and endocrine disorders. - Lifestyle Recommendations
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For individuals with Turner Syndrome, adopting a healthy lifestyle can significantly improve overall well-being. Here are some key lifestyle recommendations:
1. **Regular Medical Checkups**: Regular monitoring by healthcare providers for associated conditions such as heart abnormalities, hypertension, diabetes, and osteoporosis.
2. **Balanced Diet**: A nutritious diet rich in calcium and vitamin D to support bone health. Maintaining a healthy weight is also important.
3. **Physical Activity**: Regular exercise helps improve cardiovascular health, bone density, and overall fitness. Weight-bearing activities like walking or running are particularly beneficial for bone strength.
4. **Psychological Support**: Access to counseling or therapy to cope with social, emotional, or psychological challenges.
5. **Hormone Therapy**: Discuss hormone replacement therapy options with healthcare providers to address growth and development concerns.
6. **Education and Support Groups**: Participation in support groups and educating oneself about Turner Syndrome can provide emotional support and practical insights.
7. **Avoid Smoking and Limit Alcohol**: Avoiding smoking and limiting alcohol intake can reduce the risk of cardiovascular complications.
8. **Sleep Hygiene**: Maintaining regular sleep patterns and addressing any sleep disorders.
Combining these lifestyle changes with appropriate medical care can enhance the quality of life for individuals with Turner Syndrome. - Medication
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Turner syndrome is a chromosomal disorder affecting females, where one of the X chromosomes is missing or partially missing. The primary medications used in managing Turner syndrome typically include:
1. **Growth hormone therapy**: Administered to increase height during childhood and adolescence.
2. **Estrogen replacement therapy**: Initiated at the time of normal puberty to promote the development of secondary sexual characteristics and maintain bone health.
"NAN" is unclear in this context and may need further clarification. If "NAN" refers to a specific medication or concept, please provide more information. - Repurposable Drugs
- There are no well-established repurposable drugs specifically for Turner syndrome, as the condition is typically managed through hormone replacement therapies such as estrogen and growth hormone to address the key symptoms. Management may also involve cardiovascular treatments and thyroid hormone monitoring in some cases, depending on the individual's specific health challenges.
- Metabolites
- Turner syndrome is a genetic disorder that affects females, where one of the X chromosomes is missing or partially missing. Research on the metabolite profile of individuals with Turner syndrome is limited, but studies indicate that there may be alterations in several metabolic pathways. These can include changes in lipid metabolism, glucose metabolism, and amino acid levels. Altered levels of metabolites such as cholesterol, triglycerides, and insulin have been observed in some individuals with Turner syndrome, which could contribute to the increased risk of conditions like obesity, type 2 diabetes, and cardiovascular diseases associated with the disorder. For precise metabolite information, further research and specialized metabolic profiling would be necessary.
- Nutraceuticals
- Nutraceuticals do not have a specific role in the management of Turner syndrome. Turner syndrome is a chromosomal disorder affecting females, typically characterized by the absence of part or all of a second sex chromosome. Management usually includes hormone replacement therapy to address growth and development issues, and monitoring for associated conditions such as cardiovascular, renal, and thyroid problems. Nutraceuticals should not replace standard medical treatments, and any supplementation should be discussed with a healthcare provider.
- Peptides
- Turner syndrome is a chromosomal disorder that affects females, characterized by the partial or complete loss of one of the X chromosomes. It is not typically associated with or directly treated through peptides or nanotechnology. Management of Turner syndrome often involves hormone therapies, such as growth hormone and estrogen replacement, to address stunted growth and delayed puberty. Key management strategies focus on monitoring and treating associated symptoms and conditions, such as cardiovascular, renal, and thyroid issues.