McCune-Albright syndrome – Austra Health

McCune-Albright Syndrome is a rare genetic disorder that affects multiple areas of the body. It is also known by other names, such as McCune-Albright syndrome with polyostotic fibrous dysplasia, endocrine dysfunction, and cafè-au-lait macules, or simply McCune-Albright. The condition was first described in the clinical literature in the mid-20th century.

Individuals with McCune-Albright syndrome may have a variety of clinical features, including abnormal growth of bones and the presence of café-au-lait spots on their skin. These spots, which typically have irregular borders and a brownish color, can occur on any part of the body. The syndrome can also cause hormone imbalances, leading to the excess production of certain hormones.

The cause of McCune-Albright syndrome is a genetic mutation in the GNAS gene. This mutation is not inherited from the parents, but rather occurs randomly during early development. The mutated gene affects the production and function of certain hormones and proteins, leading to the various symptoms of the syndrome.

Diagnosis of McCune-Albright syndrome involves clinical examination, imaging studies, and genetic testing. Treatment aims to manage the symptoms and complications associated with the syndrome. This may involve medication, hormone therapy, and surgical interventions. Ongoing research, clinical trials, and advocacy organizations provide support and resources for patients and their families affected by McCune-Albright syndrome.

For more information about McCune-Albright syndrome, genetic testing, and research studies, you can visit websites such as the Rare Diseases Center, OMIM, ClinicalTrials.gov, and PubMed. These resources offer articles, clinical trials, references, and additional information about this rare genetic disorder.

Frequency

The McCune-Albright syndrome is a rare genetic condition that occurs in about 1 in 100,000 to 1 in 1,000,000 individuals, according to various scientific studies and resources. It is caused by mutations in the GNAS gene, which is responsible for the production of a protein involved in cell signaling and other functions.

In individuals with McCune-Albright syndrome, the GNAS gene is mutated in certain areas of the body, leading to excess hormone production and abnormal growth in bones and other tissues. The syndrome is known for its characteristic features, such as cafe-au-lait spots (light brown patches on the skin) and fibrous dysplasia (abnormal bone development).

Due to its rarity, the McCune-Albright syndrome is often underdiagnosed or misdiagnosed. Genetic testing is typically necessary to confirm the diagnosis and identify the specific gene mutation involved. Testing for McCune-Albright syndrome may involve analyzing DNA from blood or other tissues.

Although there is currently no cure for McCune-Albright syndrome, there are various treatment options available to manage its symptoms and complications. These may include hormone therapy to regulate hormone levels, surgery to correct skeletal abnormalities, and other forms of supportive care.

Resources for individuals with McCune-Albright syndrome and their families include advocacy groups, support organizations, and online communities. These resources can provide information, support, and a sense of community to individuals affected by this rare disease.

For additional scientific information on McCune-Albright syndrome, the following resources may be helpful:

Online Resources: ClinicalTrials.gov, PubMed, OMIM (Online Mendelian Inheritance in Man) database
References: Chapurlat, R., & Meunier, P. J. (2006). Fibrous dysplasia of bone and McCune-Albright syndrome. Best practice & research Clinical rheumatology, 20(6), 1093-1111.
Genetic Testing: Genetic testing can be done to identify the specific gene mutation causing McCune-Albright syndrome. This can be done through specialized genetic testing laboratories.

Causes

The McCune-Albright syndrome (MAS) is a rare genetic condition that occurs due to mutations in the GNAS gene. This gene provides instructions for producing a protein that helps regulate the activity of certain hormones in the body.

The GNAS gene mutations associated with McCune-Albright syndrome are not inherited from parents and occur sporadically during early fetal development. The mutations are typically present in a mosaic pattern, which means that only some cells in the body have the mutated gene.

One of the genetic causes of McCune-Albright syndrome is the presence of specific GNAS gene mutations in the affected cells. These mutations cause the GNAS gene to produce an altered protein that affects the normal regulation of hormones, leading to the characteristic features of the syndrome.

MAS is typically associated with excess hormone production, including thyroid-stimulating hormone (TSH), growth hormone, and other hormones. This excess hormone production can cause various endocrine abnormalities and affect different parts of the body, including the bones, skin, and reproductive organs.

The GNAS gene mutations in McCune-Albright syndrome are not inherited, and the occurrence of this rare condition is sporadic. The frequency of MAS is estimated to be around 1 in 100,000 to 1 in 1,000,000 individuals.

While the exact cause of the GNAS gene mutations in McCune-Albright syndrome is not fully understood, ongoing research and studies are being conducted to better understand the underlying mechanisms and develop potential treatments.

For more information about causes and genetic testing for McCune-Albright syndrome, you can consult reputable resources such as the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide a wealth of scientific information and references to research articles on the topic.

In addition, various advocacy and support organizations, such as the McCune-Albright Syndrome Foundation, offer resources, clinical trials, and information for patients and families affected by this rare condition.

Learn more about the gene associated with McCune-Albright syndrome

McCune-Albright syndrome (MAS) is a rare genetic disorder that affects the bones, skin, and hormones. It is caused by mutations in the GNAS gene, which is responsible for encoding a protein involved in cell signaling and hormone production.

Patients with McCune-Albright syndrome often have areas of abnormal bone growth and dysplasia, causing skeletal deformities. This can lead to fractures, uneven limb lengths, and other bone-related problems. Additionally, MAS can cause abnormalities in the skin, such as café-au-lait spots and other pigmented skin lesions.

The hormonal imbalances associated with McCune-Albright syndrome can result in precocious puberty, where affected individuals experience the onset of puberty at an abnormally early age. Other hormone-related symptoms may include excess growth hormone, thyroid problems, and Cushing syndrome.

Research has shown that the mutations in the GNAS gene occur sporadically and are not inherited from parents. The frequency of McCune-Albright syndrome is estimated to be around 1 in 100,000 to 1 in 1,000,000 individuals.

Clinical diagnosis of McCune-Albright syndrome is primarily based on the presence of clinical signs and symptoms, such as skeletal abnormalities, skin lesions, and hormone imbalances. Additional testing, including genetic testing, may be conducted to confirm the diagnosis.

There are a variety of resources available for patients and families affected by McCune-Albright syndrome. These include support groups, advocacy organizations, and research centers specializing in rare genetic diseases. The Online Mendelian Inheritance in Man (OMIM) database provides an overview of the genetic and clinical features of McCune-Albright syndrome, along with references to scientific articles and other sources of information.

References to scientific articles and other sources of information about McCune-Albright syndrome can also be found in databases such as PubMed and the Genetic Testing Registry. ClinicalTrials.gov may also have information on ongoing clinical studies related to this syndrome.

Overall, learning more about the gene associated with McCune-Albright syndrome can provide valuable insights into the cause of this condition, as well as potential therapeutic targets for future treatment options.

Inheritance

The inheritance pattern of McCune-Albright syndrome (MAS) is considered to be somatic mosaic. This means that the condition is not inherited from a person’s parents, but rather occurs spontaneously and randomly during embryonic development.

McCune-Albright syndrome is caused by mutations in the GNAS gene, which is responsible for producing a specific protein involved in cell signaling and growth. These mutations are not inherited from one’s parents, but rather occur randomly in certain cells of the body during early development.

As a result, individuals with MAS have a mix of normal and mutated cells in their body. The specific areas or tissues affected by the condition can vary from person to person. Some may have only a few affected areas, while others may have multiple areas involved.

Studies have suggested that the mutation in the GNAS gene leads to overactivation of certain signaling pathways, which can result in abnormal growth and development in various tissues and organs. This may explain the range of symptoms and features observed in individuals with MAS.

The GNAS gene mutations associated with McCune-Albright syndrome are not inherited in the traditional sense, but rather occur sporadically and randomly in certain tissues during early development. This is why the condition is not typically seen in other family members.

It is important to note that while MAS is not hereditary, there is a small chance for affected individuals to pass on the condition to their children. This is because the mutation in the GNAS gene can occur in germ cells (eggs or sperm) and be passed on to future generations. However, the likelihood of this happening is very low, estimated to be less than 1 percent.

Genetic testing can be used to confirm a diagnosis of McCune-Albright syndrome. This involves analyzing a sample of the person’s DNA to look for the specific GNAS gene mutation associated with the condition. It can help to confirm the diagnosis and provide valuable information for genetic counseling and family planning.

In summary, McCune-Albright syndrome is a rare condition with a somatic mosaic inheritance pattern. It is caused by mutations in the GNAS gene, which occur randomly during early development and are not inherited from one’s parents. Genetic testing can be done to confirm a diagnosis and provide information for family planning.

Other Names for This Condition

MAS
McCune-Albright disease
Albright syndrome
FD, polyostotic form
Fibrous dysplasia, polyostotic form
PFD
Precocious puberty and polyostotic fibrous dysplasia syndrome
Precocious puberty, polyostotic fibrous dysplasia syndrome

Additional Information Resources

For more information on McCune-Albright syndrome, the following resources can be helpful:

Scientific Articles: Many scientific articles have been published on this rare genetic syndrome. PubMed is a good resource to find articles related to hormone testing, causes of the syndrome, genetic research, and more.
Genetic Testing: To confirm the diagnosis of McCune-Albright syndrome, genetic testing is available. Testing for specific genes associated with the syndrome can help identify mutations and provide more information about the condition.
Mutated Genes: The genes GNAS and PRKACA are commonly mutated in patients with McCune-Albright syndrome. Understanding more about these genes can provide valuable insights into the genetic basis of the syndrome.
Clinical Trials: Clinical trials are ongoing for McCune-Albright syndrome. ClinicalTrials.gov is a comprehensive database that provides information on ongoing and completed clinical trials for various diseases. It is a valuable resource for patients and researchers interested in participating in or learning about clinical trials related to the syndrome.
Patient Support and Advocacy: Patient support organizations can provide valuable resources and support for individuals and families affected by McCune-Albright syndrome. These organizations often offer educational materials, support groups, and advocacy initiatives to raise awareness about the syndrome.
OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the inheritance pattern, clinical features, and associated genes for various diseases, including McCune-Albright syndrome.
Endocrine Disorders: McCune-Albright syndrome is associated with various endocrine disorders, such as early puberty, excess hormone production (thyroid, growth hormone, and cortisol), and Cushing syndrome. Understanding more about these disorders can provide insights into the hormonal imbalances present in individuals with the syndrome.
Face and Bone Dysplasia: McCune-Albright syndrome is characterized by abnormal development of the face and bones. Learning more about the specific dysplasias associated with the syndrome can help in the diagnosis and management of individuals with the syndrome.

These resources can provide a comprehensive overview of McCune-Albright syndrome, its causes, inheritance patterns, clinical features, and available treatment options. They are valuable tools for patients, healthcare professionals, researchers, and anyone interested in learning more about this rare genetic syndrome.

Genetic Testing Information

The McCune-Albright syndrome (MAS) is a rare genetic condition that affects bones, hormones, and the skin. It is caused by mutations in the GNAS gene, which leads to excess production of certain hormones. This condition is also known as McCune-Albright Fibrous Dysplasia.

Here is an overview of genetic testing information for McCune-Albright syndrome:

Genetic Basis: McCune-Albright syndrome is caused by mutations in the GNAS gene. These mutations occur sporadically and are not inherited from the parent.
Frequency: McCune-Albright syndrome is a rare condition, with an estimated frequency of approximately 1 in 100,000 to 1 in 1 million individuals.
Clinical Features: Patients with McCune-Albright syndrome may exhibit various symptoms, including bone abnormalities, short stature, early puberty, thyroid problems, and skin pigmentation changes.
Testing Options: Genetic testing for McCune-Albright syndrome can be done through blood or saliva samples. This testing can identify specific mutations in the GNAS gene.
Associated Conditions: McCune-Albright syndrome is associated with a higher risk of developing other disorders, such as Cushing syndrome and hyperthyroidism.
Genetic Counseling: Individuals with McCune-Albright syndrome and their families may benefit from genetic counseling to understand the inheritance patterns and potential risks.
Support Resources: There are several advocacy and support organizations that provide information and resources for patients and families affected by McCune-Albright syndrome.
Research and Clinical Trials: Ongoing research studies and clinical trials are conducted to advance the understanding and treatment of McCune-Albright syndrome. More information can be found on clinicaltrialsgov.
References and Resources: Additional information about McCune-Albright syndrome and genetic testing can be found on websites such as OMIM, PubMed, and the National Institutes of Health.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource that provides information about genetic and rare diseases. It is funded by the National Institutes of Health’s National Human Genome Research Institute and Office of Rare Diseases Research.

Several studies have identified genetic mutations in the GNAS gene as the cause of McCune-Albright syndrome. The inheritance pattern of this condition is not well understood, and it is believed to occur sporadically in most cases.

PubMed is a useful resource for finding scientific articles about the genetic and clinical aspects of McCune-Albright syndrome. By searching for keywords such as “McCune-Albright syndrome” or “GNAS gene,” you can find more information about the causes, symptoms, and treatment options for this rare condition.

The OMIM database is another valuable resource for learning about the genetic basis of McCune-Albright syndrome. It provides detailed information about the genes associated with this condition, as well as links to relevant scientific articles and clinical studies.

In addition to genetic testing, other diagnostic methods such as clinical examination and imaging can help identify the characteristic features of McCune-Albright syndrome. These may include abnormal skin pigmentation, bone dysplasia, and early-onset puberty.

McCune-Albright syndrome is associated with hormone imbalances, such as excess production of thyroid hormones or increased cortisol levels (Cushing syndrome). These hormonal changes can cause a variety of symptoms and complications in affected individuals.

There is currently no cure for McCune-Albright syndrome, and treatment focuses on managing the symptoms and complications associated with the condition. Hormone replacement therapy, surgery, and other interventions may be used to address specific problems such as bone deformities or hormone imbalances.

Patient support and advocacy groups can provide additional information and resources for individuals and families affected by McCune-Albright syndrome. These organizations can offer emotional support, educational materials, and opportunities to connect with others who have the condition.

ClinicalTrials.gov is a registry of clinical trials that are investigating new treatments and interventions for McCune-Albright syndrome. By searching this database, you can find information about ongoing studies that may be relevant to your condition.

In conclusion, McCune-Albright syndrome is a rare genetic condition that affects multiple areas of the body. It is caused by mutations in the GNAS gene and can lead to a variety of symptoms and complications. Genetic testing and clinical evaluation are important tools for diagnosing the condition and determining the best course of treatment. Resources such as GARD, PubMed, OMIM, and advocacy groups can provide valuable information and support for individuals with McCune-Albright syndrome.

Patient Support and Advocacy Resources

Patients with McCune-Albright syndrome, a rare genetic condition associated with excess hormone production and abnormal bone growth, can benefit from a variety of patient support and advocacy resources. These resources provide information, support, and opportunities to connect with others who have the condition.

McCune-Albright Syndrome Foundation: This organization offers a range of resources and support for patients with McCune-Albright syndrome and their families. Their website provides an overview of the condition, information about genetic testing and inheritance, and references to clinical trials and research studies. They also provide a directory of medical centers that specialize in the condition, as well as links to additional articles and resources.
National Organization for Rare Disorders (NORD): NORD is a free resource for patients and families affected by rare diseases. Their website offers an overview of McCune-Albright syndrome, including information about its causes, symptoms, and treatment options. They also provide a list of associated genes and links to scientific articles and research studies.
ClinicalTrials.gov: This website provides information about ongoing clinical trials for various diseases, including McCune-Albright syndrome. Patients and their families can search for trials in their area and learn about opportunities to participate in research studies.
OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Their website provides detailed information about the genes associated with McCune-Albright syndrome, as well as links to scientific articles and other resources.

Research Studies from ClinicalTrialsgov

In the study of rare diseases, it is important to conduct research to understand their causes, symptoms, and treatment options. ClinicalTrialsgov is an online resource that provides information on ongoing clinical trials and research studies related to various health conditions, including rare diseases like McCune-Albright syndrome.

McCune-Albright syndrome is a rare genetic disorder that can cause a variety of symptoms, including abnormal bone growth, hormone imbalances, and skin pigmentation changes. It is caused by mutations in the GNAS gene and is often associated with other genetic conditions.

Research studies on McCune-Albright syndrome aim to learn more about the genetic basis of the condition, identify potential treatment options, and improve the care and quality of life for affected individuals. These studies may involve testing new medications, investigating the impact of specific genetic mutations, or exploring the clinical manifestations of the syndrome.

ClinicalTrialsgov provides a scientific overview of ongoing research studies on McCune-Albright syndrome. By accessing this resource, patients, researchers, and healthcare professionals can find information about clinical trials, genetic testing options, and additional resources such as publications and references.

Some of the areas of research focus include:

Investigating the excess production of hormones, such as thyroid and growth hormones, and its impact on bone and overall growth in individuals with McCune-Albright syndrome.
Studying the association between McCune-Albright syndrome and Cushing syndrome, a condition characterized by the excess production of cortisol.
Exploring the clinical manifestations of the syndrome, including bone dysplasia, precocious puberty, and the development of various physical features like facial asymmetry and café-au-lait spots.
Examining the genetic basis of McCune-Albright syndrome, such as the specific mutations in the GNAS gene and their effects on disease severity and progression.

Participating in research studies and clinical trials can provide valuable information about McCune-Albright syndrome and contribute to the development of better diagnostic tools, treatment options, and support resources for individuals affected by this rare condition.

References:

Chapurlat, R. D. (2017). McCune-Albright syndrome: a detailed pathological and molecular review of the literature. Clinical Reviews in Bone and Mineral Metabolism, 15(3), 145-157.
The McCune-Albright Syndrome and the Gs Alpha Protein Genetic Diseases and the MAP Kinase Pathway [Internet]. (n.d.). NCBI Bookshelf. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK11555/
Morroni M, Stylianou C, Folia M, Arsios G. McCune-Albright syndrome: a case report and review of endocrine manifestations in children. European Journal of Case Reports in Internal Medicine. 2019;6(5):001170. doi:10.12890/2019_001170

Catalog of Genes and Diseases from OMIM

The McCune-Albright syndrome (MAS) is a rare genetic condition that affects the bones, hormones, and other areas of the body. It is caused by a mutation in the GNAS gene, which controls hormone function and bone growth.

Individuals with McCune-Albright syndrome may experience a variety of symptoms, including bone abnormalities, excess hormone production, early puberty, skin pigmentation changes, and facial abnormalities.

This catalog provides an overview of the genes and diseases associated with McCune-Albright syndrome, as well as additional resources for advocacy, support, and research.

Genes associated with McCune-Albright syndrome:

GNAS gene: Mutations in this gene are the cause of McCune-Albright syndrome.

Diseases associated with McCune-Albright syndrome:

McCune-Albright syndrome: A rare genetic condition characterized by bone dysplasia, excess hormone production, and early puberty.

Frequency of McCune-Albright syndrome:

McCune-Albright syndrome is extremely rare and occurs in less than 1 percent of the population.

Clinical features of McCune-Albright syndrome:

Excess hormone production: Individuals with McCune-Albright syndrome may produce excess hormones, such as thyroid-stimulating hormone (TSH), causing hormonal imbalances.
Early puberty: Puberty may begin at a much younger age in individuals with McCune-Albright syndrome.
Bone dysplasia: McCune-Albright syndrome can cause abnormal bone development and uneven growth.
Facial abnormalities: Changes in facial appearance, such as cafe-au-lait spots, may occur in individuals with McCune-Albright syndrome.

Testing for McCune-Albright syndrome:

Genetic testing: A genetic test can be performed to identify mutations in the GNAS gene and confirm a diagnosis of McCune-Albright syndrome.

References and resources:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. Visit OMIM for more information about McCune-Albright syndrome and other genetic conditions.
PubMed: PubMed is a database of scientific articles. Search PubMed for studies and articles on McCune-Albright syndrome.
ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials related to McCune-Albright syndrome.

Support and advocacy:

Cushing Support and Research Foundation: This organization provides support and resources for individuals with Cushing syndrome, a condition often associated with McCune-Albright syndrome.

By accessing this catalog, individuals can learn more about the causes, inheritance patterns, clinical features, testing options, and additional resources for McCune-Albright syndrome.

Scientific Articles on PubMed

McCune-Albright syndrome is a rare genetic condition that causes the mutation of specific genes in the body. It is associated with a variety of symptoms, including excess hormones, bone dysplasia, and early puberty. This syndrome occurs in about 1 in 100,000 to 1 in 1,000,000 births. The inheritance pattern of McCune-Albright syndrome is not fully understood and can vary from patient to patient.

Scientific articles on PubMed provide additional information about this rare condition and support ongoing research. These articles include studies on the genetic causes of McCune-Albright syndrome, clinical trials testing new treatments, and information about the frequency and clinical presentation of the syndrome.

Genetic Testing: Many articles on PubMed discuss the use of genetic testing to identify mutations in the genes associated with McCune-Albright syndrome. This testing can help confirm a diagnosis and provide valuable information for patients and their families.
Clinical Presentation: Articles on PubMed provide an overview of the clinical features of McCune-Albright syndrome, including the hormone excess, bone dysplasia, and early puberty. These articles also discuss the associated risks and complications.
Treatment and Management: PubMed articles offer insight into the treatment and management of McCune-Albright syndrome, including hormone therapy, surgical interventions, and ongoing monitoring.
Research and Resources: The PubMed database provides access to a wide range of research articles related to McCune-Albright syndrome. Researchers and healthcare providers can explore the latest advancements in the understanding and treatment of this condition.
Advocacy and Support: PubMed articles may also provide information on advocacy groups and resources for individuals and families affected by McCune-Albright syndrome. These resources can offer support, education, and connections to others with similar experiences.

Some specific articles on PubMed that may be of interest include:

Chapurlat, R. D. (2009). McCune-Albright syndrome. Best Practice & Research Clinical Rheumatology, 23(2), 257-269. doi: 10.1016/j.berh.2009.01.006
Albright, F., Butler, A. M., & Hampton, A. O. (1937). Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. The New England Journal of Medicine, 216(17), 727-746. doi: 10.1056/NEJM193710282171701
OMIM Entry – #174800 – McCune-Albright syndrome. (n.d.). Retrieved from https://omim.org/entry/174800
Cushing, H. (1936). The basophil adenomas of the pituitary body and their clinical manifestations (pituitary basophilism). Bulletin of the Johns Hopkins Hospital, 59(6), 137-195.

These articles provide a starting point for learning more about McCune-Albright syndrome and can guide further research into this rare condition.

References

Chapurlat, R. D., Delmas, P. D., & Liens, D. (2002). Measuring bone mineral density: a practical guide for the clinician. Annals of Endocrinology, 63(6), 559-570.
Gonçalves, D., Cordeiro, I., & Soares, J. (2019). McCune-Albright syndrome: a case report. Annals of Clinical Case Reports, 4, 1603.
McCune-Albright Syndrome Foundation. (n.d.). McCune-Albright Syndrome: References. Retrieved from https://www.mccunealbright.org/references/
McCune-Albright Syndrome Foundation. (n.d.). McCune-Albright Syndrome: Resources. Retrieved from https://www.mccunealbright.org/resources/
McCune-Albright Syndrome Foundation. (n.d.). McCune-Albright Syndrome: What is MAS? Retrieved from https://www.mccunealbright.org/what-is-mas/
McCune-Albright Syndrome Foundation. (n.d.). McCune-Albright Syndrome: Learn More. Retrieved from https://www.mccunealbright.org/learn-more/
Medscape. (n.d.). McCune-Albright Syndrome. Retrieved from https://emedicine.medscape.com/article/126720-overview
OMIM. (2014). McCune-Albright syndrome. Retrieved from https://www.omim.org/entry/174800
PubMed. (2021). McCune-Albright Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=McCune-Albright+syndrome