Cushing's syndrome is an endocrine disorder caused by excessive production of cortisol, a stress hormone, in the body. Cortisol is an important hormone that helps the body respond to stress, regulates metabolism, blood pressure and the immune system.

What is Cushing's syndrome?

History and name of Cushing's syndrome

Cushing's syndrome is named after Harvey Cushing, an American neurosurgeon who first described the condition in 1932. Cushing was a pioneer in the study of endocrine diseases and contributed greatly to the understanding of the functions of the pituitary gland and its effects on other endocrine glands, including the adrenal glands. His research was fundamental to understanding hormonal regulation and how hormone imbalances can affect human health. Cushing's syndrome remains one of his key discoveries in identifying and treating problems caused by excessive cortisol production.

The role of cortisol in the body

Cortisol is a hormone produced by the adrenal glands that plays an important role in regulating the body's metabolism and immune function. Cortisol helps the body respond to stress by increasing the availability of glucose to provide energy. It also regulates blood pressure, prevents inflammation and controls electrolyte balance. However, excessive levels of cortisol in the body can cause a number of health problems such as high blood pressure, weight gain and reduced bone density.

Causes and risk factors of Cushing's syndrome

Cushing's syndrome can occur for a number of reasons, including hormonal imbalances or tumours affecting the adrenal glands. The condition can also be caused by long-term use of glucocorticoids, which are often used to treat autoimmune diseases. Cushing's syndrome often develops gradually and can be difficult to diagnose, as symptoms may initially be minor or associated with other medical conditions.

• Adrenal adenomaA: an adenoma developing in the adrenal gland can cause excessive cortisol production.
• Pituitary adenomaA: An adenoma in the pituitary gland can lead to excessive production of adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to produce more cortisol. This overproduction of ACTH is the main cause of Cushing's syndrome, which leads to elevated cortisol levels and associated symptoms.
• Ectopic production of adrenocorticotropic hormone (ACTH)A: some tumours that develop outside the pituitary gland can also produce ACTH, which stimulates the adrenal glands to produce excessive cortisol.

What are the symptoms of Cushing's syndrome?

The symptoms of Cushing's syndrome are varied and can vary depending on the duration and cause of the excessive cortisol levels. Symptoms often develop gradually and patients may initially attribute them to other health conditions such as stress or ageing. Excessive cortisol production affects various organs and tissues, causing a wide range of symptoms from physical changes to mental health problems, making the syndrome difficult to diagnose. Some of the most common symptoms include:

• Face roundness (moon face): characterised by rounding of the face caused by the accumulation of fat in the face.
• Abdominal obesity: fat accumulates in the abdomen, while the arms and legs often remain slim.
• Weight gain: particularly pronounced on the upper body, with fat accumulating on the neck and back.
• Skin problems: thin, vulnerable skin, bruising, red stretch marks on the abdomen, thighs and chest.
• Muscle weakness: muscle weakness, especially in the legs and arms, which can make daily activities difficult.
• Increased blood pressureA: Cushing's syndrome often leads to hypertension, which increases the risk of cardiovascular disease.
• Decrease in bone densityA: Osteoporosis is a common complication of Cushing's syndrome, as excessive cortisol reduces bone density.
• Mood swings and mental health problemsA: Depression, anxiety and emotional instability are common symptoms of Cushing's syndrome.

If you notice these symptoms, it is important to consult a doctor, such as an endocrinologist, for the necessary tests.

Diagnosis of Cushing's syndrome

Diagnosing Cushing's syndrome is complex and involves several tests to measure cortisol levels in the body and identify the cause of overproduction:

• 24-hour urine cortisol test: the patient collects urine within 24 hours to determine if cortisol levels are elevated.
• Dexamethasone suppression test: the patient is given the synthetic glucocorticoid dexamethasone to assess whether cortisol production is reduced. If this does not occur, there is a possibility of Cushing's syndrome.
• Blood and saliva tests: measuring cortisol levels in blood or saliva, especially in the evening when cortisol levels should normally be low.
• Magnetic resonance imaging (MRI) or computed tomography (CT): are used to identify tumours in the pituitary or adrenal glands that could be the cause of excessive cortisol production.

These tests help doctors to accurately diagnose Cushing's syndrome and prescribe appropriate treatment.

What can be the complications of Cushing's syndrome?

If left untreated, Cushing's syndrome can lead to a number of serious complications that have a significant impact on a patient's quality of life and can cause long-term health problems, including cardiovascular, bone, metabolic and immune health. These complications can make daily activities more difficult and significantly reduce quality of life if measures are not taken to control them.

• Cardiovascular diseasesA: high blood pressure and high cholesterol levels increase the risk of heart disease and stroke.
• OsteoporosisA: Cortisol decreases bone density, which increases the risk of fractures.
• Diabetes mellitus: Excessive levels of cortisol can lead to insulin resistance and increased blood glucose levels, which can lead to the development of type 2 diabetes.
• Mental health disordersA: Depression, anxiety and emotional problems can worsen if Cushing's syndrome is left untreated.
• InfectionsA: Cortisol suppresses the immune system, increasing the risk of infections.

Treatment and control of Cushing's syndrome

• Surgical intervention: if Cushing's syndrome is caused by a tumour in the pituitary or adrenal gland, surgical removal of the tumour may be necessary. In the case of pituitary adenomas, transsphenoidal surgery may be used to access the tumour through the nose. If the tumour is in the adrenal gland, removal of the adrenal gland (adrenalectomy) is performed. After surgery, hormone replacement therapy may be needed to compensate for reduced hormone production.
• Radiation therapy: if surgery is not possible or not fully effective, radiotherapy may be used to reduce tumour size and cortisol production. Radiotherapy is often used when the tumour is difficult to reach or too dangerous to remove. Therapy may be needed over a longer period of time to ensure that cortisol levels return to normal.
• Glucocorticoid dose reduction: if Cushing's syndrome is due to long-term glucocorticoid use, your doctor may recommend a gradual dose reduction to prevent excessive cortisol levels. It is important to do this gradually to avoid glucocorticoid-induced adrenal insufficiency, which can be life-threatening.

It is important to consult an endocrinologist or GP if you develop symptoms of Cushing's syndrome. The doctor will be able to review the patient's investigations and help you choose the most appropriate treatment.

Conclusion

Cushing's syndrome is a complex and potentially serious condition that requires careful diagnosis and tailored treatment. With early diagnosis, appropriate treatment and a healthy lifestyle, it is possible to improve quality of life and reduce the risk of complications. Regular medical check-ups, a support system and lifestyle adjustments can help control the disease and improve the patient's well-being. It is important to take an active role in controlling and improving one's own health and to seek help from qualified professionals to ensure the best possible outcome.

Additional resources

• The difficult mild diagnosis - pituitary adenoma (Source: Doctus)
• Una Gailiša: Cushing's syndrome (Source: Arsts.lv)
• Cushing's Syndrome (Source: US National Institute of Diabetes and Digestive and Kidney Diseases)