Cushing’s Syndrome - Causes, Symptoms, and Treatment

Introduction

Cushing’s syndrome is a rare and progressive pituitary disorder that can cause severe weight gain. It is a condition in which the adrenal glands produce too much of a hormone, cortisol. Cushing’s syndrome can occur due to a pituitary gland or adrenal gland tumor. Cushing’s syndrome commonly affects adults aged between 20 and 50. Cushing’s syndrome is an endogenous condition as something inside the body is causing the disease rather than any external factors like medicines. It is more common in females than males.

What Is Cushing Syndrome?

Cushing’s syndrome, or hypercortisolism, is a condition in which the body makes a high cortisol level over a prolonged period. Cortisol is produced by the adrenal glands situated on the top of the kidneys. Cortisol is often known as the stress hormone as it helps the body respond to stress. The characteristic feature of Cushing’s syndrome is weight gain that makes a face become round in shape, often known as moon face.

What Are the Causes of Cushing Syndrome?

Cushing’s syndrome is caused due to high amounts of cortisol. The various causes for high cortisol levels are as follows:

• Corticosteroids:

  • Prolonged usage of corticosteroid medications like Prednisolone that are used to treat rheumatoid arthritis, sarcoidosis, chronic asthma, etc.

  • High-dose-injectable steroids that are used for treating back pain.

  • Prolonged usage of topical steroids in children.

• Adrenal Gland Tumors:

  • A tumor or growth on the adrenal gland can lead to overproduction of cortisol. Mostly these are benign tumors.

  • Cancerous growths like adrenal cortical carcinoma can also lead to cortisol overproduction.

• Pituitary Gland Tumors: Tumors of the pituitary gland that are located at the base of the brain produce excess amounts of ACTH (adrenocorticotropic hormone) can cause Cushing’s syndrome.

• Ectopic Tumors: Tumors that are formed outside the pituitary gland can also lead to excess ACTH production. Such tumors are seen in the thyroid gland, pancreas, lungs, and thymus gland.

• Familial Factors: Cushing’s syndrome is not inherited and does not run in families. But rarely an inherited tendency to develop tumors on the hormone-producing endocrine glands is seen.

What Are the Symptoms of Cushing Syndrome?

The common symptoms of Cushing’s syndrome that are seen in both men and women are as follows:

• Weight gain, particularly in the upper body and midsection.

• Moon face (rounding and swelling of the face).

• Buffalo hump (fatty deposit between the shoulders).

• Thin, fragile skin that bruises easily.

• Purple or pink stretch marks on the abdomen, thighs, and breasts.

• Acne or skin infections.

• Delayed wound healing.

• Muscle weakness and wasting.

• Osteoporosis.

• High blood pressure.

• Increased thirst and urination.

• Mood swings and irritability.

• Depression or anxiety.

• Fatigue and weakness.

• Glucose intolerance or diabetes.

The symptoms that are seen in women are as follows:

• Menstrual irregularities like changes in cycle length, absence of periods, or infrequent periods.

• Excess growth of facial and body hair (hirsutism).

• Thinning of scalp hair.

The symptoms that are seen in men are as follows:

• Erectile dysfunction (difficulty achieving or maintaining an erection).

• Decreased libido (reduced sex drive).

How to Diagnose Cushing Syndrome?

The doctor takes a detailed history of the symptoms and underlying health conditions of the patient. A physical examination to look for signs like stretch marks, a bump between the shoulders, and bruises is done. The other methods to diagnose Cushing’s syndrome are as follows:

• Hormone Testing:

  • Measurement of Cortisol Levels: A 24-hour urine collection or late-night saliva sample is collected to measure cortisol levels. Increased cortisol levels may indicate Cushing's syndrome.

  • Dexamethasone Suppression Test: This test involves taking a low dose of Dexamethasone and measuring cortisol levels before and after the test. In Cushing's syndrome, inadequate cortisol suppression is seen.

  • ACTH Measurement: Blood tests are done to measure ACTH levels. High levels of ACTH indicate Cushing's disease from a pituitary gland tumor, while low levels indicate an adrenal or ectopic tumor related to Cushing’s syndrome.

• Imaging Studies:

  • Magnetic Resonance Imaging (MRI): An MRI scan of the brain is performed to look for abnormalities in the pituitary gland, like tumors, which may cause Cushing's syndrome.

  • Computed Tomography (CT) Scan: A CT scan is used to visualize the adrenal glands for any tumors or abnormalities.

  • Positron Emission Tomography (PET) Scan: PET scans can help locate the exact source of excess cortisol production, particularly in cases of ectopic ACTH production.

• Additional Diagnostic Tests:

  • High-Dose Dexamethasone Suppression Test: The cortisol levels are measured after giving a high dose of Dexamethasone. Lack of cortisol suppression indicates Cushing's syndrome.

  • Inferior Petrosal Sinus Sampling: This procedure involves taking blood from the veins and draining the pituitary gland to measure ACTH levels. This is to determine the source of excess hormone production.

  • Salivary Cortisol Testing: Multiple salivary cortisol measurements throughout the day can help in assessing cortisol levels and diagnosing Cushing's syndrome.

What Are the Treatment Options for Cushing Syndrome?

The treatment options for Cushing’s syndrome vary according to the underlying cause. The various treatment options are as follows:

• Surgery:

  • Surgery is often the primary treatment for Cushing's syndrome.

  • The specific procedure depends on the source of excess cortisol production.

  • For pituitary tumors, transsphenoidal surgery is performed to remove the tumor from the pituitary gland.

  • If a tumor is detected in one or both adrenal glands, surgical removal (adrenalectomy) may be necessary. In some cases, a minimally invasive laparoscopic approach can be used. In severe cases, bilateral adrenalectomy (removal of both the adrenal glands) may be done.

  • Tumors producing ACTH outside of the pituitary or adrenal glands are treated by locating and removing the tumor, often with surgical resection or other targeted interventions.

• Medications: Medications that are used to manage Cushing's syndrome work by reducing cortisol production or blocking its effects. A few examples of the drugs are Ketoconazole, Mifepristone, Metyrapone, etc.

• Radiation Therapy: Radiation therapy may be considered if surgery fails to completely remove the tumor causing Cushing's syndrome. It is typically used for recurrent or residual pituitary tumors that cannot be surgically removed.

Conclusion:

Although Cushing's syndrome can be a challenging condition to manage, there is hope for individuals diagnosed with this disorder. With advances in medical knowledge, diagnostic techniques, and treatment options, most patients can lead normal lives. Timely diagnosis and appropriate treatment, including surgical intervention, medication, and radiation therapy, can effectively address the underlying causes of Cushing's syndrome. By targeting excessive cortisol production, symptoms can be controlled, leading to improved quality of life and overall well-being of the patients.