Rare case of woman with adrenal Cushing’s, acromegaly reported

44-year-old patient had no genetic issues to connect the two conditions

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by Andrea Lobo |

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The rare case of Cushing’s syndrome due to a cortisol-producing adrenal tumor and acromegaly that resulted from a growth-hormone-producing tumor in the pituitary gland was described in a recent report.

Acromegaly occurs when the pituitary gland produces excessive amounts of growth hormone during adulthood, resulting in the abnormal growth of certain body parts, mainly the hands, feet, and face. Cushing’s syndrome is an umbrella term for conditions driven by high cortisol levels. It’s often caused by a tumor in the pituitary gland, which produces excessive amounts of adrenocorticotropic hormone (ACTH), which controls cortisol production in the adrenal glands. In such cases, it is called Cushing’s disease.

The case was described in “A Rare Case When Acromegaly Meets Cushing Syndrome,” in JCEM Case Reports.

Less frequently, tumors in the adrenals can directly increase cortisol production. The adrenal glands are located atop the kidneys and produce hormones that regulate several body functions.

Considering the rarity of both Cushing’s caused by adrenal tumors and acromegaly, the chance of them appearing in the same person is extremely low and can make a diagnosis challenging.

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Removing pituitary adenoma 

The patient, a 44-year-old woman, was initially seen by her optometrist due to progressively blurring vision and was found to have vision impairment in the lateral half on both sides of her field of vision.

A MRI scan revealed an adenoma, a benign tumor, in the pituitary gland, which was displacing and flattening the optic chiasm, the region where the optic nerves that carry information from each eye come together, causing her visual issues.

Laboratory tests showed elevated levels of growth hormone and insulin-like growth factor 1 (IGF-1), a hormone that regulates the effect of growth hormone, consistent with acromegaly. Her ACTH levels were decreased and cortisol levels were within the normal range.

The woman did have other pituitary-related issues, including a deficiency in gonadotropins, hormones that signal the ovaries (or testes in men) to produce sex hormones, and thyroid hormone.

She reported several acromegaly-related symptoms after being seen by an endocrinologist, who specializes in hormone-related conditions. These included the absence of menstruation that started two months before presentation, joint pain, skin tags, changes in facial features, and enlarged hands and feet.

She also reported gaining 30 pounds, which she lost with a restrictive diet. Before she had surgery to remove her pituitary adenoma, she started hydrocortisone and thyroid hormone replacement therapy.

The tumor was removed by a transsphenoidal adenomectomy, a minimally invasive procedure that lets pituitary tumors be removed through the hollow space behind the nasal passages below the pituitary gland, called the sphenoid sinus, without damaging surrounding tissues.

Although her IGF-1 levels fell after surgery, they were still elevated, whereas ACTH and gonadotropins were still suppressed. She responded to an ACTH stimulation test, which measures how well the adrenal glands respond to ACTH by producing cortisol.

Cause of Cushing’s symptoms

Three months after surgery, an MRI scan showed a possible residual pituitary tumor. That, along with still elevated IGF-1, raised concerns about persistent acromegaly. The woman continued to complain of weight gain, poor sleep, facial and ankle swelling, and had elevated salivary and urine cortisol levels.

An abdominal CT scan revealed an adenoma in her left adrenal gland, the likely cause of her Cushing’s symptoms. The tumor was surgically removed and her symptoms began to ease. Her sleep improved, ankle swelling decreased, and she lost weight. Months later, her menstruation was restored and her IGF-1 levels returned to normal.

Although several genetic syndromes may link Cushing’s with acromegaly, this was not the case here. A genetic test showed a variant in one copy of the PTCH1 gene, with no established connection to these conditions.

“This case raises the question of whether we should be actively searching for additional endocrine [hormonal] abnormalities in patients diagnosed with one endocrine problem. We believe that … [it] should be evaluated on a case-by-case basis,” the researchers wrote.

While identifying other hormonal issues early could be lifesaving in some cases, commonly used tests in such patients may be difficult to interpret and could lead to unnecessary invasive procedures. “Overall, this case serves as a reminder that we should keep a high index of suspicion for concomitant endocrine abnormalities and in those cases our gold-standard testing may be insufficient,” the researchers said.