What Is Cushing's Syndrome?
Cushing’s Syndrome is a hormonal disorder caused by prolonged high levels of cortisol in the body. Cortisol is an important hormone secreted by the adrenal glands that regulates the body’s stress response. However, when produced in excess or taken externally as medication (e.g., corticosteroid therapy), it has negative effects on many body systems. Cushing’s Syndrome, excluding ectopic etiologies, occurs more frequently in women and is reported at least 4 times more often than in men. Cortisol-secreting adrenal adenomas are the most common cause (55%) of adrenal-dependent Cushing’s Syndrome. Although adrenal Cushing’s Syndrome is usually diagnosed when there’s suspicion based on obvious symptoms and signs of hypercortisolemia, autonomous cortisol secretion leading to hypercortisolemia can also be detected during the evaluation of adrenal incidentalomas discovered incidentally through imaging. The prevalence of benign adrenocortical incidentalomas is around 10% in individuals over 70 years of age, and it’s reported that approximately 30% of them secrete excessive amounts of cortisol without the typical features of overt Cushing’s Syndrome.
What Are The Cushing's Syndrome Symptoms?
The symptoms of Cushing’s Syndrome often develop slowly and insidiously. A prolonged elevation of cortisol concentration in the body affects numerous systems, leading to a wide variety of complaints, ranging from physical appearance changes to metabolic processes. Patients often first notice changes in their external appearance; subsequently, systemic problems related to hormonal imbalances may develop.
The most commonly observed symptoms include:
- Round face (moon face appearance)
- Fat accumulation in the abdominal area, disproportionately thin arms and legs
- Fat accumulation on the back of the neck (referred to as a buffalo hump)
- Increased body hair (hirsutism), hair loss in women
- Thin skin, easy bruising, and delayed wound healing
- Purple stretch marks on the back and abdomen
- Muscle weakness, especially in the thigh and arm muscles
- Menstrual irregularities in women, even absence of menstruation, acne on the skin
- Fatigue, weakness, and mood changes (depression, irritability)
- Restlessness and memory impairment
- Recurrent infections, abdominal pain
- High blood pressure and increased blood sugar
- Decreased bone density (osteoporosis)
- Significant weight gain in the trunk, obesity
These symptoms may not appear with the same intensity in every patient. In some patients, aesthetic complaints may be prominent, while others may present with metabolic or psychological effects. Uzm. Dr. Burcu Meryem Atak Sançmış holistically evaluates all these symptoms and conducts an individualized diagnosis and treatment process.
What Causes Cushing's Syndrome?
Cushing’s Syndrome is most often caused by excessive ACTH secretion from the pituitary gland (Cushing’s Disease), adrenal gland tumors, or the long-term use of corticosteroid medications. Rarely, tumors that ectopically produce ACTH can also be the cause. If we divide it into two main groups:
- Exogenous (External) Causes:
- The most common reason is the long-term use of high doses of corticosteroid medications (cortisone).
- Endogenous (Internal) Causes:
- Pituitary gland tumor (Cushing’s Disease): Overproduction of cortisol from the adrenal glands due to excessive release of the ACTH hormone.
- Adrenal adenoma/carcinoma: Increased cortisol production by the adrenal gland itself.
- Ectopic ACTH production: Hormone-secreting tumors from other organs such as the lungs or pancreas.
What Are The Diagnostic Methods For Cushing's Syndrome?
The diagnosis of Cushing’s Syndrome is established through careful evaluation of symptoms and the application of a series of hormonal tests. The diagnostic process may include the following steps:
- Late-night cortisol test (nighttime salivary cortisol)
- Low-dose dexamethasone suppression test
- 24-hour urinary free cortisol measurement
- Evaluation of ACTH levels
- DHEA-S (Dehydroepiandrosterone)
- MRI (for the pituitary gland) or CT/MRI (for the adrenal glands) imaging
- Genetic evaluation – KDM1A, ARMC5, PRKAR1A mutations
- New Methods: Metabolomics: It has been shown that measuring multiple steroids in urine or serum using chromatographic methods (mass spectrometry) increases the diagnostic power for CS and reduces the likelihood of incorrect subtyping.
- Special Situations:
- Pregnancy: CS screening should be performed using urinary free cortisol measurement.
- Shift Work: Dexamethasone suppression tests should be preferred.
What Are The Treatment Methods For Cushing's Syndrome?
Treatment is determined by the cause of the syndrome. The primary goal is to normalize cortisol levels:
- Medication Adjustment:
- Dose reduction or discontinuation of cortisone medications in patients receiving cortisone therapy (under medical supervision).
- Surgical Intervention:
- Transsphenoidal surgery for pituitary adenomas.
- Adrenalectomy for adrenal tumors.
- Removal of the relevant tumor in cases of ectopically ACTH-secreting tumors.
- Radiotherapy:
- Preferred for pituitary tumors when surgery is not possible or insufficient.
- Medical Therapy:
- Medications that reduce cortisol production: Options include Ketoconazole, Metyrapone, Pasireotide.
Following treatment, regular follow-up, monitoring of hormone levels, and assessment of relapse risk are important.
What Happens If It Remains Untreated?
If Cushing’s Syndrome remains untreated, there can be a significant decrease in quality of life, and serious health problems may emerge over time:
- Hypertension (high blood pressure)
- Heart diseases
- Type 2 diabetes
- Bone loss and fracture risk
- Increased susceptibility to infections
- Depression and anxiety disorders
- Risk of venous thromboembolism
Therefore, symptoms should not be ignored; prompt action must be taken for early diagnosis and a correct treatment process.
Uzm. Dr. Burcu Meryem Atak Sançmış, with her expertise in endocrinology and patient-centered approach, offers you a reliable and scientific roadmap for your Cushing’s Syndrome diagnosis and treatment. Do not delay your health; seek professional support to prevent long-term risks.
Frequently Asked Questions
Does Cushing's Syndrome Affect Life Expectancy?
If left untreated, it can shorten life expectancy; it is a chronic disease with high mortality. However, with appropriate treatment, a normal life expectancy is possible, although survival may be shorter compared to the general population.
Are Cushing's Syndrome And Cushing's Disease The Same Thing?
No. Cushing’s Disease develops due to pituitary-dependent ACTH excess, while Cushing’s Syndrome originates from the adrenal gland.
Does Cushing's Syndrome Make It Difficult To Lose Weight?
Yes, excess cortisol increases fat accumulation and makes weight loss challenging.
Is Recovery Possible After Treatment?
In most patients, symptoms regress with treatment. However, some skin and muscle changes may be permanent.
What Is The Difference Between Cushing's Disease And Syndrome?
Cushing’s Syndrome refers to a general condition caused by high cortisol levels, while Cushing’s Disease specifically indicates the presence of a tumor in the pituitary gland that increases cortisol production.
Does Cushing's Syndrome Develop Without Cortisone Use?
Yes. An endogenous overproduction of cortisol in the body (e.g., due to a pituitary or adrenal tumor) can lead to Cushing’s Syndrome.
Information Request Form
For detailed information and to make an appointment, please fill out our information request form.