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Cushing's Syndrome

What do I have?

Cushing’s syndrome refers to the physical and emotional symptoms caused by having too much of one particular hormone: cortisol. Cortisol is one of the most important hormones, and it has effects on almost every organ in the body. Without cortisol, life is impossible, but when there is too much of cortisol, its effects are equally dramatic and life threatening. For this reason, the amount of cortisol in your blood is tightly regulated by the hypothalamus, the pituitary gland, and the adrenal glands (which are the site of production of cortisol). Because the regulation of cortisol is so strict, abnormalities in any of these organs or abnormalities in other organs that can affect the pituitary can cause the balance of cortisol to be disturbed, leading to Cushing’s syndrome. When a pituitary tumor causes too much of a hormone to be produced (ACTH = AdrenoCorticoTrophic Hormone), the excess ACTH forces the adrenal glands to produce abnormally high amounts of cortisol, leading to Cushing’s syndrome.

What does it do?

When there is too much cortisol in the blood, it can cause weight gain, fatigue, easy bruising, purple stretch marks on the abdomen, facial redness (called plethora), excess facial and body hair (especially notable in women), increased risk of infection, depression, high blood pressure, diabetes, and osteoporosis. In addition, in women it can cause the menstrual cycle to stop, and in men it can cause decreased libido and erectile dysfunction. If cortisol levels remain abnormally high for too long, the effects of diabetes, hypertension, and increased risk of infection can be fatal, but it is important to emphasize that almost all pituitary adenomas are benign tumors and not cancer.

Many of these symptoms are not specific, meaning that people who have some of these symptoms may not have Cushing’s syndrome, and many patients with Cushing’s syndrome will only have some but not all of these symptoms. This is what makes diagnosis Cushing’s syndrome difficult. In addition, Cushing’s syndrome can be caused by a pituitary tumor (in which case it is called Cushing’s disease, named after the neurosurgeon who discovered both conditions), or the syndrome may be caused by a variety of other medical conditions not involving the pituitary gland. This makes the diagnosis and management of Cushing’s syndrome very tricky, and requires expertise from experienced endocrinologists, neurosurgeons, and vascular radiologists.

How long have I had it?

Unlike other pituitary tumors, which can be slow growing and subtle in their effects, pituitary tumors that cause Cushing’s syndrome are usually discovered relatively quickly after the tumor forms, because the effects of having too much cortisol are so dramatic and the impact on the patient’s quality of life is so serious. However, this is a complex and sometimes difficult diagnosis, and it is not uncommon for patients to have symptoms for years before it becomes clear that they have Cushing’s syndrome.

Can it be cured?

The majority of these tumors can be cured or controlled through a combination of surgery and radiation therapy. The first line of treatment is surgery, unless the patient has other medical conditions that make surgery unsafe. If surgery is not possible, or if the whole tumor cannot be removed, then radiation therapy (often radiosurgery) is an option as well. Medical treatment also exists, but it is not as effective as surgery or radiation, it is associated with significant side effects, and it requires close endocrinologic monitoring and adjustment.

It is important to emphasize that, unlike other pituitary tumors, patients with tumors that cause Cushing’s syndrome are more likely to have a recurrence of their disease (as high as 25%). This may be due to multiple microscopic tumors within the pituitary gland. For this reason, patients with Cushing’s disease need especially close follow-up with experts who know how to detect any recurrence early so it can be managed safely and effectively.

What caused it?

For the majority of pituitary tumors, there is no known cause. These tumors appear to develop in a surprising number of patients without any clear reason. Recent work has suggested that there may be certain changes in the DNA of these tumors that lead to their formation, but their true cause remains elusive and is an active area of research.

In rare cases, these tumors may be part of a syndrome that can be inherited in families. For that reason, if anyone else in your family has ever had kidney stones, or has ever had a pituitary tumor, or has had any tumor of other hormone-producing organs (like the thyroid gland, the parathyroid gland, the adrenal glands, the pancreas, or the reproductive organs), let us know so that we can determine if your family is potentially a carrier for this inheritance.

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