Young man develops asymptomatic Cushing’s from a rare adrenal tumor

Patient, 23, had no symptoms despite abnormal lab test results

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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A young man developed an asymptomatic form of Cushing’s syndrome — called subclinical Cushing’s syndrome — as a result of a pheochromocytoma, a tumor that can form in the adrenal glands and is usually benign, according to a report from Nepal.

“Diagnosing these conditions can be challenging as they often lack clear symptoms, requiring careful evaluation, monitoring, and treatment to prevent complications,” researchers wrote.

The report, “Asymptomatic pheochromocytoma associated with MEN syndrome and subclinical Cushing’s syndrome,” was published in the International Journal of Surgery Case Reports.

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Cushing’s syndrome is a condition marked by excess cortisol, a steroid that helps regulate multiple bodily functions, such as maintaining blood pressure, regulating blood glucose, and reducing inflammation.

This molecule is made in the adrenal glands, which are two glands located on top of the kidneys. Sometimes, elevated levels of cortisol are the result of an adrenal tumor, which can produce cortisol in excess.

A team of researchers in Nepal have now documented the case of a 23-year-old man who developed clinical signs of Cushing’s syndrome, but no clear symptoms of the disease, as a result of a pheochromocytoma in the right adrenal gland.

Pheochromocytomas are tumors that are usually benign

Pheochromocytomas are tumors that can appear anywhere in the body and are usually benign. They are marked by the excess production of catecholamines such as norepinephrine and epinephrine, which function as hormones to regulate a number of functions in the body and are also chemical messengers used by nerve cells to communicate with each other.

“Most individuals with pheochromocytoma do not exhibit obvious symptoms, necessitating blood and urine tests, along with imaging studies, for accurate diagnosis,” the researchers wrote. “The size of the tumor does not necessarily indicate the severity of symptoms.”

The man was admitted to the surgery department with bloating in the right side of the abdomen. A round mass, which had been found accidentally on an imaging scan to the abdomen after a car accident, had nearly doubled in size, to about 10 cm in diameter, in six months.

Diagnosing these conditions can be challenging as they often lack clear symptoms, requiring careful evaluation, monitoring, and treatment to prevent complications.

On examination, doctors found several small, soft, and movable lumps under the skin along the trunk. These lumps didn’t cause any pain and resembled a type of growth called a lipoma, which is made of fat cells. The physical exam was otherwise unremarkable.

Urine testing revealed higher-than-normal metanephrine and vanilmandelic acid, which result from the breakdown of catecholamines. These molecules can cause high blood pressure, but the man had no history of hypertension.

His urine and blood also had higher-than-normal levels of cortisol. However, adrenocorticotropic hormone (ACTH), which acts on the adrenal glands to control the release of cortisol and is a cause of Cushing’s disease, was within the normal range.

Usually, when patients receive steroids, there is a feedback loop that tells the adrenal glands to stop producing cortisol. However, people with Cushing’s do not respond the same way to a steroid challenge, and will continue to produce cortisol even in the presence of other steroids.

Notably, the level of cortisol in the blood remained high after a test that involved the patient taking one milligram of dexamethasone, a steroid, which was suggestive of Cushing’s syndrome.

“Surprisingly, the patient remained asymptomatic despite these abnormal lab values,” the researchers wrote.

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Patient undergoes surgery to remove right adrenal gland

After additional imaging exams confirmed the presence of an abdominal mass pushing down the right kidney, the man was diagnosed with pheochromocytoma with ACTH-independent Cushing’s syndrome.

He received surgery to remove the right adrenal gland, and an analysis of tumor samples under a microscope showed features of a pheochromocytoma.

Because a pheochromocytoma can cause multiple endocrine neoplasia (MEN) syndrome, a condition in which other hormones may also be elevated, the team measured the levels of additional hormones.

They found elevated levels of calcitonin — a hormone made by the thyroid gland in the neck — and parathyroid hormone, which is made by the parathyroid glands located next to the thyroid. However, imaging scans revealed no changes in these glands, so “he was counseled for follow up if any symptoms or thyroid swelling appears.”

Because MEN syndrome has a genetic cause, “early diagnosis and genetic counseling are crucial in preventing complications associated with these conditions. By identifying them, appropriate treatment can be ensured for positive outcomes of patients and their families,” the researchers wrote.