What is Cushing's Syndrome and Do You Need to Worry About This Hormonal Disorder?

By: Divya Yogi-Morren, MD • Posted on March 25, 2024

Recently, comedian Amy Schumer, has brought much-needed attention to Cushing's syndrome, an uncommon yet serious hormonal disorder that disproportionately impacts the female population. Ms. Schumer's openness about her personal diagnosis has helped shed light on this frequently misunderstood condition. The data indicates a notable gender disparity in the prevalence of Cushing's syndrome, with women at a significantly higher risk of developing this disorder compared to their male counterparts. Given these findings, it is imperative that women educate themselves on the symptoms and potential consequences associated with Cushing's syndrome to foster early detection and proper management.

What is Cushing's Syndrome?

Cushing’s syndrome is a condition caused by prolonged exposure to high levels of the hormone cortisol. It is a condition that can make you sick and even be fatal if left untreated. The syndrome presents a diagnostic and management challenge, involving a variety of symptoms due to the overproduction of cortisol.

Endogenous and Exogenous Cushing's syndrome

Endogenous Cushing's syndrome is caused by excess cortisol production that comes from within the body, often due to a tumor in the pituitary gland, adrenal gland or another site. This leads to overproduction of ACTH (adrenocorticotropic hormone) or cortisol.

Exogenous Cushing's syndrome is caused by taking glucocorticoid medications, such as prednisone, for an extended period. The external steroids provide the body with more cortisol than it normally produces, leading to Cushing's symptoms and complications.

Too much cortisol in the body can cause signs and symptoms of Cushing`s syndrome.

What are the signs and symptoms of Cushing's syndrome?

Cushing's syndrome, characterized by an excess of cortisol in the body, can manifest through a wide range of signs and symptoms. These include:

Physical Changes

• Weight gain, particularly around the midsection and upper back
• Round, red face, often described as a "moon face"
• Fatty hump between the shoulders, known as a "buffalo hump"
• Thinning arms and legs compared to the rest of the body
• Stretch marks, especially wide, purple, or pink on the skin of the abdomen, thighs, breasts, and arms

Skin Changes

• Thinning, fragile skin that bruises easily
• Slow healing of cuts, insect bites, and infections
• Acne or other skin infections

Musculoskeletal Issues:

• Muscle weakness, particularly in the thighs and upper arms
• Decreased bone density, leading to osteoporosis and increased risk of fractures

Metabolic and Systemic Symptoms

• High blood pressure
• High blood glucose levels or diabetes mellitus
• Fatigue and weakness
• Increased thirst and urination

Psychological and Cognitive Effects

• Mood swings, depression, or anxiety
• Cognitive difficulties, such as memory and concentration issues

Reproductive and Sexual Health Issues

• In women, irregular or absent menstrual periods and hirsutism (excessive hair growth on the face, chest, abdomen, or thighs)
• In men, decreased libido and erectile dysfunction

Other symptoms may include sleep disturbances, headaches, and in children, a slowdown in growth rate.

The reality of Cushing's syndrome is that it can be a chameleon, with symptoms manifesting in vastly different ways from one woman to the next. Some may experience the classic weight gain, moon face and easy bruising, while others battle fatigue, mood swings and irregular periods. 

The severity and combination of symptoms largely depends on just how long excess cortisol has been ravaging the body. But one thing's for sure - the earlier Cushing's is caught, the better chance you have of getting those hormone levels under control before they wreak long-term havoc.

How to diagnose Cushing's syndrome

Diagnosing Cushing's is a process, but catching it early is crucial. The first step is noting the signs and symptoms. Those red flags could prompt your doctor to investigate further.

After a thorough clinical assessment your doctor will start with some screening tests like measuring your late-night saliva cortisol levels, checking for excess cortisol in a 24-hour urine sample and a low-dose dexamethasone suppression test. If those tests raise suspicion of Cushing's, more in-depth tests are needed. 

Once Cushing's is confirmed, the next hurdle is figuring out what's causing the cortisol overload. Is it a pituitary tumor pumping out too many hormones? Or maybe a growth on your adrenal glands? Getting the right diagnosis means more imaging scans and possibly sampling blood from a vein near your pituitary gland. 

The diagnostic process is complex and may require multiple tests and specialist consultation. Early diagnosis and appropriate treatment are crucial to avoid the long-term complications such as high blood pressure, bone loss and diabetes that is associated with Cushing's syndrome.

How to treat Endogenous Cushing’s syndrome

When it comes to treating Cushing's syndrome, the goal of treatment is to bring back the cortisol levels into the normal healthy range. For most causes of Endogenous Cushing's, that means surgery to remove the pituitary or adrenal tumor that is fueling the cortisol overproduction. When surgery isn't an option or has not been completely curative, medications or radiation can help. 

Some target a pituitary tumor directly, while others block cortisol synthesis or its effects. For patients with Cushing's disease from a pituitary tumor where surgery is not successful or not an option, pituitary radiation therapy can be effective but may take years to achieve full effect. It also carries a risk of hypopituitarism or other pituitary hormone deficiencies. 

In recurrent or refractory cases, removing the adrenal glands entirely may be necessary as a last resort, despite the need for lifetime hormone replacement after the adrenal glands are removed. The treatment regimen is a personalized process that also involves managing all the associated conditions like weight gain, high blood pressure, osteoporosis, diabetes and psychiatric symptoms.

How to treat Exogenous Cushing’s syndrome

For women whose Cushing's syndrome arises from taking prolonged glucocorticoid therapy, such as prednisone, abruptly discontinuing the medication without a proper tapering regimen could precipitate an adrenal crisis. This is a potentially life-threatening scenario of cortisol deficiency that must be avoided. It is important to work with an Endocrinologist and come up with a gradual and carefully monitored steroid weaning process. This allows your own body's hypothalamic-pituitary-adrenal (HPA) axis that controls cortisol secretion to recover and recalibrate it`s cortisol production. 

Under close medical supervision, your steroid dosage should be progressively reduced over the course of weeks or months, with monitoring for signs of adrenal insufficiency. This gradual steroid weaning process is critical to circumvent the debilitating withdrawal symptoms, such as fatigue, nausea and drops in blood pressure. 

The management of Exogenous Cushing's syndrome requires a multidisciplinary approach, involving endocrinologists, primary care providers and other specialists as needed. The process of discontinuing steroids and recovery of the HPA axis can vary significantly among individuals, requiring personalized management strategies and close monitoring.

In summary:

• Diagnosing Cushing's syndrome can be a complex process due to the diverse range of presenting symptoms. 
• The primary objective of treatment is to restore cortisol levels to their normal physiological range.
• This is typically achieved through surgical removal of the tumor responsible for the hypercortisolemic state and medications and radiation if needed. 

Be Strong, Be Healthy, Be in Charge!
Divya Yogi-Morren, MD, F.A.C.E.

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