A form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for ectopic Cushing syndrome is limited primarily due to its rarity, which restricts the scope of systematic clinical studies. As a condition that often overlaps with other forms of Cushing syndrome, distinguishing its specific characteristics can be challenging. Additionally, the lack of identified genetic factors and inheritance patterns further complicates comprehensive understanding and documentation.
Patients with ectopic Cushing syndrome often present with several key clinical features. The most common symptoms include increased urinary cortisol levels (80-99% of patients) and paradoxical cortisol secretion on dexamethasone suppression tests (80-99%). Additionally, many patients experience increased circulating cortisol and ACTH levels, along with fatiguable weakness of proximal limb muscles. Other notable features include diabetes mellitus, thin skin, osteoporosis, and bruising susceptibility, affecting 30-79% of patients.
To navigate your care effectively, consider seeking a specialist in endocrinology with experience in Cushing syndrome and related disorders. It may also be beneficial to consult with an oncologist if a tumor is suspected. While there are currently no patient organizations specifically dedicated to ectopic Cushing syndrome, you can explore resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about participation in clinical trials or natural history studies to contribute to research and gain access to potential treatments.
Currently, there is ongoing research in the form of clinical trials for ectopic Cushing syndrome, with 16 active trials available. Notably, metyrapone has been designated as an orphan drug for this condition, indicating its potential therapeutic development. For more information on these trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=ectopic%20Cushing%20syndrome. This research landscape provides hope for future treatment options.
Actionable guidance for navigating care for ectopic Cushing syndrome
To navigate your care effectively, consider seeking a specialist in endocrinology with experience in Cushing syndrome and related disorders. It may also be beneficial to consult with an oncologist if a tumor is suspected. While there are currently no patient organizations specifically dedicated to ectopic Cushing syndrome, you can explore resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about participation in clinical trials or natural history studies to contribute to research and gain access to potential treatments.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for ectopic Cushing syndrome is limited primarily due to its rarity, which restricts the scope of systematic clinical studies. As a condition that often overlaps with other forms of Cushing syndrome, distinguishing its specific characteristics can be challenging. Additionally, the lack of identified genetic factors and inheritance patterns further complicates comprehensive understanding and documentation.
Patients with ectopic Cushing syndrome often present with several key clinical features. The most common symptoms include increased urinary cortisol levels (80-99% of patients) and paradoxical cortisol secretion on dexamethasone suppression tests (80-99%). Additionally, many patients experience increased circulating cortisol and ACTH levels, along with fatiguable weakness of proximal limb muscles. Other notable features include diabetes mellitus, thin skin, osteoporosis, and bruising susceptibility, affecting 30-79% of patients.
To navigate your care effectively, consider seeking a specialist in endocrinology with experience in Cushing syndrome and related disorders. It may also be beneficial to consult with an oncologist if a tumor is suspected. While there are currently no patient organizations specifically dedicated to ectopic Cushing syndrome, you can explore resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about participation in clinical trials or natural history studies to contribute to research and gain access to potential treatments.
Currently, there is ongoing research in the form of clinical trials for ectopic Cushing syndrome, with 16 active trials available. Notably, metyrapone has been designated as an orphan drug for this condition, indicating its potential therapeutic development. For more information on these trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=ectopic%20Cushing%20syndrome. This research landscape provides hope for future treatment options.
Actionable guidance for navigating care for ectopic Cushing syndrome
To navigate your care effectively, consider seeking a specialist in endocrinology with experience in Cushing syndrome and related disorders. It may also be beneficial to consult with an oncologist if a tumor is suspected. While there are currently no patient organizations specifically dedicated to ectopic Cushing syndrome, you can explore resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about participation in clinical trials or natural history studies to contribute to research and gain access to potential treatments.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for ectopic Cushing syndrome is limited primarily due to its rarity, which restricts the scope of systematic clinical studies. As a condition that often overlaps with other forms of Cushing syndrome, distinguishing its specific characteristics can be challenging. Additionally, the lack of identified genetic factors and inheritance patterns further complicates comprehensive understanding and documentation.
Patients with ectopic Cushing syndrome often present with several key clinical features. The most common symptoms include increased urinary cortisol levels (80-99% of patients) and paradoxical cortisol secretion on dexamethasone suppression tests (80-99%). Additionally, many patients experience increased circulating cortisol and ACTH levels, along with fatiguable weakness of proximal limb muscles. Other notable features include diabetes mellitus, thin skin, osteoporosis, and bruising susceptibility, affecting 30-79% of patients.
To navigate your care effectively, consider seeking a specialist in endocrinology with experience in Cushing syndrome and related disorders. It may also be beneficial to consult with an oncologist if a tumor is suspected. While there are currently no patient organizations specifically dedicated to ectopic Cushing syndrome, you can explore resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about participation in clinical trials or natural history studies to contribute to research and gain access to potential treatments.
Currently, there is ongoing research in the form of clinical trials for ectopic Cushing syndrome, with 16 active trials available. Notably, metyrapone has been designated as an orphan drug for this condition, indicating its potential therapeutic development. For more information on these trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=ectopic%20Cushing%20syndrome. This research landscape provides hope for future treatment options.
Actionable guidance for navigating care for ectopic Cushing syndrome
To navigate your care effectively, consider seeking a specialist in endocrinology with experience in Cushing syndrome and related disorders. It may also be beneficial to consult with an oncologist if a tumor is suspected. While there are currently no patient organizations specifically dedicated to ectopic Cushing syndrome, you can explore resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about participation in clinical trials or natural history studies to contribute to research and gain access to potential treatments.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 10 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.