50 Facts About Cushing Syndrome

What is Cushing Syndrome?

Cushing syndrome, also known as hypercortisolism, is a rare endocrine disorder caused by prolonged exposure to high levels of cortisol. Cortisol is a hormone produced by the adrenal glands, and its excess can lead to a variety of symptoms and complications.

1. Cushing syndrome occurs when the body produces too much cortisol over a long period of time.

Causes of Cushing Syndrome

Understanding the causes of Cushing syndrome is crucial for diagnosis and treatment. The condition can result from various factors, including tumors, genetic mutations, and external corticosteroid use.

2. The most common cause of Cushing syndrome is exogenous corticosteroid use.
3. Endogenous causes include Cushing disease (a pituitary tumor), adrenal tumors, and ectopic ACTH-producing tumors.

Symptoms of Cushing Syndrome

Symptoms of Cushing syndrome can vary widely, affecting different parts of the body. Recognizing these symptoms can help in early diagnosis and treatment.

4. Weight gain is a common symptom.
5. Thin arms and legs are often observed.
6. A round face, also known as moon facies, is characteristic.
7. Increased fat around the base of the neck is typical.
8. A fatty hump between the shoulders, known as a buffalo hump, can develop.
9. Easy bruising is frequently seen.
10. Wide purple stretch marks (striae) on the abdomen, breasts, hips, and under the arms are indicative.

Symptoms in Specific Groups

Cushing syndrome can present differently in children, women, and men. Understanding these differences is important for accurate diagnosis.

11. Children with Cushing syndrome tend to have obesity and grow more slowly.
12. Women may experience irregular or stopped menstrual periods.
13. Women might also have male-pattern face and body hair (hirsutism).
14. Men may experience decreased fertility.
15. Men might also have lowered interest in sex and erectile dysfunction.

Diagnosing Cushing Syndrome

Accurate diagnosis of Cushing syndrome involves a combination of medical history review, physical examination, and laboratory tests. Imaging studies can also help locate tumors.

16. Diagnosis involves a review of medical history and physical examination.
17. Laboratory tests are used to determine excess cortisol levels.
18. X-ray exams of the adrenal or pituitary glands can help locate tumors.
19. Comparing old and recent photographs often highlights changes in facial and body appearance.

Diagnostic Tests

Several tests are used to screen for and confirm hypercortisolism. These tests help differentiate between Cushing syndrome and other conditions with similar symptoms.

20. High-sensitivity tests such as late-night salivary cortisol are used to screen for hypercortisolism.
21. The 1 mg overnight low-dose dexamethasone suppression test is another screening method.
22. 24-hour urinary free cortisol measurement is also used.
23. Plasma ACTH measurement helps determine if hypercortisolism is ACTH-dependent or independent.

Treatment Options

Treatment for Cushing syndrome depends on the underlying cause. Surgical resection of tumors is often the primary treatment, but medications can also play a role.

24. Surgical resection of the pituitary or adrenal adenoma is the primary treatment for most patients.
25. Medications like pasireotide reduce ACTH to normal levels for about a quarter of patients.
26. Adrenal-directed inhibition of steroidogenesis using medications like ketoconazole may be used in the perioperative period.

Specific Diagnostic Tests

Certain tests are specifically designed to confirm the diagnosis and localize the site of ACTH overproduction.

27. The CRH stimulation test involves administering corticotropin-releasing hormone to measure plasma cortisol levels.
28. The dexamethasone suppression test involves administering dexamethasone to measure plasma cortisol levels.
29. Combining CRH stimulation and high-dose dexamethasone suppression tests provides nearly 100% diagnostic accuracy.

Pseudo-Cushing Syndrome

Pseudo-Cushing syndrome mimics Cushing syndrome but is not caused by excess cortisol production. It is often associated with stress, depression, or other medical conditions.

30. A midnight serum cortisol level of less than 7.5 μg/dL is strongly suggestive of pseudo-Cushing syndrome.
31. Treatment involves addressing the underlying cause, which should correct hypercortisolism spontaneously.

Surgical Treatment and Post-Surgical Monitoring

Surgery is often the treatment of choice for Cushing disease, but careful long-term follow-up is necessary to monitor for recurrence and manage hormone replacement therapy.

32. Transphenoidal removal of the tumor is the treatment of choice for Cushing disease.
33. Cure is likely if hypocortisolism develops in the first few days to weeks after surgery.
34. Most patients require glucocorticoid replacement therapy for months to years post-surgery.
35. Patients require careful long-term follow-up and monitoring for signs and symptoms of tumor recurrence.
36. The pituitary-adrenal axis must be evaluated six to 12 months after surgery to determine the potential need for lifetime exogenous steroid replacement therapy.

Complications of Cushing Syndrome

Cushing syndrome can lead to various complications, affecting multiple systems in the body. Managing these complications is crucial for improving the quality of life.

37. Muscle weakness is a common symptom, leading to difficulty performing daily activities.
38. Easy bruising occurs due to the thinning of skin caused by excess cortisol.
39. Facial plethora, or a round, red face, is a characteristic sign.
40. A hump on the back of the neck, known as a buffalo hump, is common.
41. Purple stretch marks, especially on the chest, armpits, and belly, are indicative.
42. Skin changes such as acne and excessive facial hair are also symptoms.
43. Unusual, rapid weight gain, especially around the belly, is common.

Managing Complications

Addressing the complications of Cushing syndrome involves a combination of medical treatment and lifestyle changes. Early intervention can prevent long-term damage.

44. Osteoporosis is a significant complication, increasing the risk of fractures.
45. High blood pressure is likely to develop in patients over 40 years old.
46. High blood sugar or diabetes is another complication.
47. Extreme fatigue or trouble sleeping is common due to the metabolic effects of excess cortisol.
48. Depression or psychosis can occur due to hormonal imbalance.
49. Memory loss can affect daily functioning, requiring medical intervention.
50. Recurrent opportunistic or bacterial infections are a complication due to the immunosuppressive effects of excess cortisol.

Final Thoughts on Cushing Syndrome

Cushing syndrome is a complex condition caused by prolonged exposure to high cortisol levels. It can result from various factors like tumors, genetic mutations, or corticosteroid use. Symptoms include weight gain, thin arms and legs, a round face, and purple stretch marks. Diagnosis involves medical history, physical exams, and lab tests. Treatments range from surgery to medications like pasireotide and ketoconazole. Complications can include muscle weakness, high blood pressure, diabetes, and osteoporosis. Long-term monitoring and patient education are crucial for managing this condition. Family physicians play a key role in diagnosis and ongoing care, while specialists handle definitive treatments. Understanding these facts helps in navigating the complexities of Cushing syndrome, ensuring better management and improved quality of life for those affected.