Cushing’s disease is a rare condition caused by the overproduction of cortisol, a hormone that regulates various functions in the body. It is classified as a pituitary-dependant syndrome, as the cause of the disease is located in the pituitary gland, which produces too much adrenocorticotropic hormone (ACTH). This leads to an increased production of cortisol by the adrenal glands, causing a wide range of clinical symptoms.
The exact cause of Cushing’s disease is still unclear, but research suggests that certain genetic factors may play a role in its development. Studies have shown that individuals with a family history of the disease may be at an increased risk of developing it themselves. Genetic testing is available for Cushing’s disease, and it can provide valuable information about a patient’s genetics and their inheritance pattern.
Symptoms of Cushing’s disease include weight gain, high blood pressure, muscle weakness, hirsutism (excessive hair growth in women), and a round, puffy face. Diagnosis is typically made through a combination of clinical examination, hormone testing, and imaging studies. Additional testing may be needed to pinpoint the exact cause of the disease.
Treatment for Cushing’s disease depends on the underlying cause. In some cases, surgery may be performed to remove the tumor in the pituitary gland. Other treatment options include medication to reduce cortisol production, radiation therapy, or a combination of these approaches. The goal of treatment is to control symptoms and prevent long-term complications.
For more information on Cushing’s disease, genetic testing, and available treatment options, individuals can find resources and support through organizations such as the Cushing’s Support and Research Foundation, the National Adrenal Diseases Foundation, and the Genetic and Rare Diseases Information Center. Scientific articles and references on the condition can be found in medical journals and databases such as PubMed and ClinicalTrials.gov.
Frequency
Cushing disease is a rare pituitary-dependent condition that affects the production of cortisol in the body. It is caused by a variety of genetic and environmental factors, and its frequency varies among different populations.
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In individuals with Cushing disease, certain genes involved in the production and regulation of cortisol are affected. These genes can be inherited from their parents or acquired through other genetic or environmental factors. The exact cause of Cushing disease is still unclear.
According to various studies and scientific articles, the frequency of Cushing disease is estimated to be between 2 and 7 cases per million individuals per year. However, the actual prevalence may be higher, as some cases may go undiagnosed or misdiagnosed.
Genetic testing and counseling can help identify the specific genes associated with Cushing disease and provide additional information about the inheritance pattern and risks for family members.
There are also other rare genetic diseases that can cause symptoms similar to Cushing disease, such as adrenal gland disorders and certain syndromes. These conditions may have different frequencies and inheritance patterns.
For more information on the frequency of Cushing disease and related conditions, you can refer to reputable sources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center.
Advocacy groups and support organizations, such as the Cushing’s Support and Research Foundation, provide resources and information for patients and their families.
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Causes
Cushing disease is caused by an overproduction of cortisol, a steroid hormone, by the adrenal glands. This can be due to a pituitary tumor (pituitary-dependant Cushing’s) or an adrenal tumor (adrenal-dependant Cushing’s). In rare cases, Cushing disease can also be caused by other conditions that lead to excess cortisol production.
Pituitary-dependant Cushing’s: The majority of Cushing disease cases are pituitary-dependant, meaning that the overproduction of cortisol is caused by a tumor in the pituitary gland. These tumors are usually benign (non-cancerous) and are often referred to as pituitary adenomas. Pituitary-dependant Cushing’s is more common in women than in men.
Adrenal-dependant Cushing’s: Adrenal tumors, also known as adrenal adenomas or adrenal carcinomas, can also cause Cushing disease. These tumors are located in the adrenal glands, which are located on top of the kidneys. Adrenal-dependant Cushing’s is less common than pituitary-dependant Cushing’s, accounting for about 10-15% of cases.
The exact cause of Cushing disease is unclear, but it is believed that genetic factors contribute to its development. Several genes have been implicated in Cushing disease, and rare genetic syndromes, such as Carney complex and multiple endocrine neoplasia type 1 (MEN1), have been associated with an increased risk of developing the condition. Inheritance of Cushing disease is usually sporadic, meaning that it is not passed down from parents to their children.
In addition to genetic factors, other causes of Cushing disease include certain medications (such as glucocorticoids used to treat inflammation) and other medical conditions that can increase cortisol production, such as obesity, polycystic ovary syndrome (PCOS), and insulin resistance. It is important to note that these other causes of excess cortisol production are different from Cushing disease and are not classified as such.
If a patient is suspected to have Cushing disease, additional testing, including blood tests and imaging studies, may be necessary to confirm the diagnosis. The frequency of Cushing disease is relatively rare, with an estimated incidence of 2-3 cases per million people per year.
For more information on the causes of Cushing disease, please refer to the following resources:
- OMIM – Cushing Syndrome – https://www.omim.org/entry/219080
- ClinicalTrials.gov – Cushing’s Syndrome – https://clinicaltrials.gov/ct2/results?cond=Cushing+Syndrome
- Genetics Home Reference – Cushing syndrome – https://ghr.nlm.nih.gov/condition/cushing-syndrome#genes
- Catalog of Genes and Diseases – Cushing’s syndrome – https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/RESTful/tmh59930015/resources/gad.cgi?view=disease&f=disease_class&disease_id=501062
- PubMed – Cushing’s Syndrome – https://pubmed.ncbi.nlm.nih.gov/?term=Cushing’s+Syndrome
Inheritance
- The precise inheritance pattern for Cushing Disease is unclear, and more research is needed to determine the specific genes involved and their mode of inheritance.
- Studies have shown that certain genetic factors may contribute to the development of Cushing Disease, including mutations in genes involved in the regulation of cortisol production.
- Cushing Disease can be inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to develop the condition.
- In some cases, Cushing Disease may be inherited as an autosomal recessive trait, requiring two copies of the mutated gene.
- It is also possible for Cushing Disease to occur sporadically, without any apparent genetic cause.
While there are currently no genetic tests available specifically for Cushing Disease, genetic testing may be recommended for individuals with a family history of the condition or other related syndromes. Such testing can help to identify the specific genes involved and provide information about the mode of inheritance.
For more information on the genetics of Cushing Disease and other related conditions, the following resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders, including information on the genetics of Cushing Disease and related syndromes. OMIM can be accessed at www.omim.org.
- ClinicalTrials.gov: a database of clinical trials that includes information on ongoing research studies investigating the genetics and inheritance of Cushing Disease. ClinicalTrials.gov can be accessed at www.clinicaltrials.gov.
- PubMed: a database of scientific articles on a wide range of topics, including the genetics of Cushing Disease. PubMed can be accessed at www.ncbi.nlm.nih.gov/pubmed.
In addition to these resources, patients may also consider contacting advocacy organizations and patient support groups for further information and support. These organizations can provide additional resources and connect individuals with others who may be experiencing similar challenges.
References:
- Aron DC, & Findling JW. Cushing’s Syndrome. JAMA. 2003; 289(21): 2830-2836.
- Bertagna X, Guignat L. Approach to the patient with possible Cushing’s syndrome. J Clin Endocrinol Metab. 2010; 95(9): 4121-4131.
- Isidori AM, Kaltsas GA, & Grossman AB. The diagnosis and differential diagnosis of Cushing’s syndrome and pseudo-Cushing’s states. Endocrine Reviews. 2006; 27(2): 541-579.
- Lui DTW. Differential diagnosis of Cushing’s syndrome. JAMA. 2007; 298(22): 2576-2577.
- Molitch ME. Diagnosis and treatment of pituitary adenomas: a review. JAMA. 2017; 317(5): 516-524.
Other Names for This Condition
- Pituitary-dependent Cushing disease
- Cushing syndrome, pituitary-dependent
- Cushing’s syndrome, corticotropic
- Adenoma, corticotropic
- ACTH-producing tumor, pituitary
- Hyperadrenocorticism, pituitary
- Corticotroph adenoma
- Adenoma, corticotroph
- Hyperadrenocorticism, corticotropic pituitary
- Pituitary Cushing syndrome
These are other names for Cushing disease which is a condition caused by the overproduction of cortisol, a hormone that regulates various functions in the body. It is typically caused by a pituitary tumor that produces excessive adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to produce cortisol.
Cushing disease is a rare condition, with an estimated frequency of about 10 to 15 cases per million people per year. It is considered to be one of the pituitary-dependent Cushing syndromes, which are characterized by excessive production of ACTH by the pituitary gland.
The exact genetic causes of Cushing disease are unclear, but some studies have identified certain genes that may play a role. These include genes located in the pituitary gland and genes involved in the regulation of cortisol production. Inheritance of the condition is not well understood, as it can occur sporadically or in families with no clear pattern of inheritance.
For additional information on Cushing disease, its causes, and genetics, the following resources may be helpful:
- OMIM catalog of genes and genetic conditions
- PubMed for scientific articles and research studies
- ClinicalTrials.gov for information on clinical trials
- Cushing’s Support and Research Foundation for advocacy and support
References:
- Lacroix, A., & Feelders, R. A. (2015). Cushing’s syndrome. Lancet, 386(9996), 913-927. doi:10.1016/S0140-6736(14)61375-1
- Newell-Price, J. (2018). Diagnosis and complications of Cushing’s syndrome: A consensus statement. Journal of Clinical Endocrinology & Metabolism, 103(11), 4022-4034. doi:10.1210/jc.2018-01541
Additional Information Resources
- ClinicalTrials.gov: This website provides information on ongoing clinical trials related to Cushing’s disease. Patients can search for trials and find relevant information on genetic causes, treatment options, and management strategies. Visit clinicaltrials.gov for more information.
- Genetic and Rare Diseases Information Center (GARD): GARD is a resource center that provides information on genetic causes of Cushing’s disease and related syndromes. They offer resources on inheritance patterns, genetic testing, and additional support for patients. Visit GARD to learn more.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides scientific information on genes and genetic disorders, including Cushing’s disease. It offers detailed information on the genetics and inheritance of this condition. Visit OMIM for more details.
- PubMed: PubMed is a database of scientific articles that covers a wide range of medical topics, including Cushing’s disease. Patients can find research studies, clinical guidelines, and other valuable information on the diagnosis and management of this condition. Visit PubMed for access to research articles.
- Cushing’s Support and Research Foundation: This organization provides support for patients with Cushing’s disease and advocates for research and education on this condition. They offer resources, support groups, and information on treatment options. Visit the Cushing’s Support and Research Foundation for more information.
- The National Adrenal Diseases Foundation: This organization focuses on adrenal gland disorders, including pituitary-dependent Cushing’s disease. They provide resources, support, and educational materials for patients and healthcare professionals. Visit the National Adrenal Diseases Foundation to learn more.
Genetic Testing Information
In the scientific community, genetic testing has become an essential tool in understanding the genetic basis of diseases, including Cushing’s disease. Genetic testing focuses on studying the genetic components responsible for the development and progression of adrenal and other related diseases.
The cause of Cushing’s disease is believed to be primarily due to genetic factors. While it can occur sporadically, there is evidence to suggest that genetics plays a significant role in its development.
Research has identified genes associated with the condition, including those involved in the regulation of cortisol production, adrenal tumors, and other related pathways. Several genetic syndromes are also known to cause Cushing’s disease, such as Carney complex and MEN1.
Genetic testing provides invaluable information to patients and clinicians. It helps determine the frequency of genetic mutations, inheritance patterns, and the risk of passing on the condition to future generations. Through genetic testing, individuals can understand the underlying genetic basis of their disease and make informed decisions regarding family planning and treatment options.
There are several sources available for genetic testing and information on Cushing’s disease:
- The Genetic and Rare Diseases Information Center (GARD) provides accessible information about genetic testing, genetic conditions, and genetic support groups. They offer a comprehensive catalog of genes related to Cushing’s disease.
- PubMed is a valuable resource for scientific articles, research papers, and clinical studies on the genetics of Cushing’s disease. It offers an extensive collection of research studies, including their findings and conclusions.
- The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes of various diseases, including Cushing’s disease. It serves as a reference for genetics and enables individuals to access additional resources for further reading.
- ClinicalTrials.gov is a database that lists ongoing clinical trials related to Cushing’s disease. These trials often involve genetic testing as a part of their research, contributing to the understanding of the genetic factors involved in the disease.
Advocacy groups and support organizations are also available to provide information and support for individuals affected by Cushing’s disease. They offer resources, articles, and references related to genetics and Cushing’s disease.
In conclusion, genetic testing plays a crucial role in understanding the genetic basis of Cushing’s disease. It provides valuable insights into the genetic factors involved in its development, inheritance patterns, and potential treatment options. Accessible genetic testing and information resources further contribute to the advancement of research and support for individuals affected by this condition.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive catalog of information about genetic and rare diseases for patients, their families, healthcare professionals, and the general public. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).
Cushing’s Disease
Cushing’s disease is a rare condition caused by the overproduction of cortisol, a hormone that helps regulate the body’s response to stress. It is typically caused by a pituitary-dependent tumor, but it can also be caused by other rare diseases such as adrenal-dependent tumors or genetic syndromes. The exact cause of Cushing’s disease is unknown in most cases.
Symptoms of Cushing’s disease may include weight gain, facial rounding, hirsutism (excessive hair growth), and high blood pressure. The condition can also lead to other health problems such as diabetes, osteoporosis, and cardiovascular disease.
Genetics and Inheritance
Cushing’s disease can be caused by genetic factors, but the exact genes involved are still being studied. In some cases, the condition may be inherited from a parent, but it can also occur sporadically without any family history. The inheritance pattern of Cushing’s disease is unclear at this time.
Research studies have identified some genes and genetic changes that may be associated with an increased risk of developing Cushing’s disease, but more research is needed to fully understand the genetics of this condition.
Resources for Patients and Clinicians
The GARD website provides a wealth of information on Cushing’s disease, including articles, clinical trials, genetic testing resources, and additional sources of support and information. Some of the resources available on the GARD website include:
- Fact sheets on Cushing’s disease and related topics
- A list of scientific articles and publications on the genetics and causes of Cushing’s disease
- Information on clinical trials related to Cushing’s disease
- Links to advocacy groups and patient support organizations
These resources can help individuals with Cushing’s disease and their healthcare providers to better understand and manage the condition.
For additional information and citation references related to Cushing’s disease, visit the GARD website or refer to scientific publications indexed in PubMed or OMIM.
Patient Support and Advocacy Resources
Patients with Cushing’s disease can find support and advocacy resources to assist them in learning more about their condition, connecting with other individuals who share similar experiences, and accessing additional information and resources. Some helpful resources include:
1. Cushing’s Support and Research Foundation
- Website: csrf.net
- This foundation provides support, education, and resources to individuals with Cushing’s disease. Their website offers information on the causes, symptoms, testing, and treatment of the condition.
2. National Adrenal Diseases Foundation
- Website: nadf.us
- The National Adrenal Diseases Foundation offers resources and support for individuals with adrenal diseases, including Cushing’s disease. Their website provides information on the genetic causes of adrenal diseases, symptoms, diagnosis, and treatment options.
3. ClinicalTrials.gov
- Website: clinicaltrialsgov
- This website provides information on ongoing clinical trials related to Cushing’s disease and other adrenal diseases. Patients can search for trials in their area or with specific criteria.
4. OMIM – Online Mendelian Inheritance in Man
- Website: omim.org
- OMIM is a comprehensive catalog of human genes and genetic disorders. Patients can search for specific genes and genetic syndromes associated with Cushing’s disease and other adrenal diseases.
5. PubMed
- Website: pubmed.ncbi.nlm.nih.gov
- PubMed is a database of scientific research articles. Patients can search for studies and articles related to the causes, diagnosis, and treatment of Cushing’s disease.
These resources can provide valuable information, support, and opportunities for advocacy for individuals with Cushing’s disease. It is important to stay informed and connected to a supportive community while managing this rare condition.
Research Studies from ClinicalTrialsgov
Research studies from ClinicalTrials.gov provide valuable information on the various aspects of Cushing’s disease, including its causes, genetics, and inheritance. These studies are conducted by scientific and clinical experts to gain a better understanding of this rare condition and develop effective treatments.
Here are some key findings from the research studies:
- Most cases of Cushing’s disease are caused by pituitary-dependent reasons, where excess cortisol is produced.
- Hirsutism, the excessive growth of hair in women, is frequently observed in individuals with Cushing’s disease.
- Genetic testing has revealed several genes and genetic syndromes that can cause or support Cushing’s disease.
- Additional research studies have been conducted to investigate the causes and genetic factors associated with Cushing’s disease.
- ClinicalTrials.gov is a valuable resource for finding citations, information, and articles related to Cushing’s disease.
- Studies have been conducted to determine the frequency and genetics of Cushing’s disease in different populations and ethnic groups.
- References to other related diseases and their genetic links with Cushing’s disease can also be found in the ClinicalTrials.gov database.
| Website | Description |
|---|---|
| PubMed | A database of scientific articles and research studies related to Cushing’s disease and its causes. |
| OMIM | A comprehensive catalog of human genes and genetic disorders, providing information on the genetic factors associated with Cushing’s disease. |
| Cushing’s Center | A specialized center dedicated to Cushing’s disease research, providing information and support to patients and advocacy groups. |
In conclusion, the research studies from ClinicalTrials.gov provide essential information on the inheritance, causes, and genetics of Cushing’s disease. They support the scientific and clinical understanding of this rare condition and offer valuable resources for further exploration.
Catalog of Genes and Diseases from OMIM
In the field of genetics and rare diseases, OMIM (Online Mendelian Inheritance in Man) is a valuable resource. It provides a comprehensive catalog of genes and the diseases associated with them, along with additional information such as inheritance patterns and clinical research studies. This catalog serves as a reference for scientists, clinicians, researchers, and patients.
Diseases and Genes
- OMIM catalog includes a wide range of diseases, including Cushing’s disease, which is caused by high levels of cortisol hormone.
- It provides the names and OMIM numbers for these diseases, allowing easy identification and referencing.
- Genes associated with these diseases are also listed, providing insights into the genetic causes and mechanisms.
Inheritance and Clinical Trials
- OMIM provides information on the inheritance patterns of these diseases, including whether they are inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
- Clinical trials related to these diseases can also be found, providing opportunities for patients to participate in research and testing.
Resources and Support
- OMIM serves as a central resource for information on genetic diseases, providing links to scientific articles, references, and research studies.
- It also includes links to other resources, such as PubMed and ClinicalTrials.gov, for further information and support.
- Advocacy and support groups for specific diseases are often listed, providing a network for patients and their families.
Conclusion
The catalog of genes and diseases from OMIM is an invaluable tool for understanding the genetics behind rare diseases, including Cushing’s disease. It provides a wealth of information on the causes, inheritance patterns, and potential treatment avenues for these conditions. Researchers, clinicians, and patients can benefit from the comprehensive and up-to-date information found in this catalog.
Scientific Articles on PubMed
- Scientific articles on PubMed provide valuable information on the causes, syndromes, and diseases associated with Cushing’s disease.
- PubMed is a comprehensive repository of scientific research articles and clinical studies.
- These articles offer insights into the genes and genetic inheritance involved in Cushing’s disease.
- The research on PubMed explores the various clinical trials and testing methods used to diagnose Cushing’s disease.
- Additional resources, such as patient support and advocacy groups, can also be found on PubMed.
- Studies on PubMed highlight the connection between Cushing’s disease and other conditions, including pituitary-dependant and adrenal-related syndromes.
- Rare genes and their frequency in individuals with Cushing’s disease are also documented in scientific articles.
Cushing’s disease is caused by an overproduction of cortisol, a hormone that regulates stress levels in the body. This excess cortisol is often due to a tumor on the pituitary gland. However, the exact cause of most cases of Cushing’s disease is unclear.
Genetic Studies on PubMed
Several studies have focused on the genetics of Cushing’s disease. These studies have identified rare genes located on various chromosomes that are associated with the disease. The inheritance pattern of these genes is still being studied.
Genetic testing for Cushing’s disease can be helpful in diagnosing rare cases and providing additional information on the condition. The testing can also aid in determining the risk of developing Cushing’s disease in family members.
Advocacy and Support Resources
PubMed provides a catalog of patient support and advocacy groups that can offer information and assistance to individuals with Cushing’s disease and their families. These organizations can help with finding clinical trials, accessing patient resources, and connecting with other individuals who have been diagnosed with Cushing’s disease.
References
1. PubMed: Scientific articles on Cushing’s disease. Retrieved from [insert PubMed website link].
2. OMIM: Database of genes and genetic disorders. Retrieved from [insert OMIM website link].
3. ClinicalTrials.gov: Database of ongoing and completed clinical trials. Retrieved from [insert ClinicalTrials.gov website link].
References
- Biller BM, Grossman AB, Stewart PM, et al. Treatment of adrenocorticotropin-dependent Cushing’s syndrome: a consensus statement. Journal of Clinical Endocrinology and Metabolism. 2008;93(7):2454-2462.
- Mantero F, Terzolo M, Arnaldi G, et al. A survey on adrenal incidentaloma in Italy. Study Group on Adrenal Tumors of the Italian Society of Endocrinology. 2000;83(2):637-644.
- Newell-Price J, Bertagna X, Grossman AB, Nieman LK. Cushing’s syndrome. The Lancet. 2006;367(9522):1605-1617.
- Nieman LK, Biller BM, Findling JW, et al. Treatment of Cushing’s syndrome: an Endocrine Society clinical practice guideline. The Journal of Clinical Endocrinology & Metabolism. 2015;100(8):2807-2831.
- American Association of Clinical Endocrinologists. Medical guidelines for clinical practice for the diagnosis and treatment of Cushing’s syndrome. 2020. Accessed February 10, 2021.
- National Institutes of Health. Cushing’s syndrome. 2019. Accessed February 10, 2021.
- National Organization for Rare Disorders (NORD). Cushing’s syndrome. 2021. Accessed February 10, 2021.
- Agency for Healthcare Research and Quality. Treatment options for adrenal Cushing’s syndrome. Comparative effectiveness review no. 172. 2016. Accessed February 10, 2021.
- Mancini T, Kola B, Mantero F, Boscaro M, Arnaldi G. High cardiovascular risk in patients with Cushing’s syndrome according to 1999 WHO/ISH guidelines. Clinical Endocrinology. 2004;61(6):768-777.
- Aron D, Raff H, Findling JW. Effectiveness versus efficacy: the limited value in clinical practice of high dose dexamethasone suppression testing in the differential diagnosis of adrenocorticotropin-dependent Cushing’s syndrome. Journal of Clinical Endocrinology and Metabolism. 1997;82(6):1780-1785.
