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Elyn Simmons was 31 years old and eager to start a family with her husband, Guy. But in 2016, she was diagnosed with a hormonal disorder — PCOS, or polycystic ovary syndrome — that causes fertility problems. Then Elyn began experiencing other symptoms, including unexplained weight gain, increased body hair, migraines, and severe fatigue.
Teamwork by Mayo Clinic clinicians and specialists in Mayo’s Department of Laboratory Medicine and Pathology found the source of Elyn's problem. In 2018, she was diagnosed with Cushing’s disease — a rare but treatable condition that's often misdiagnosed.
"A diagnosis of Cushing's disease can be confirmed only by laboratory tests. With a confirmed diagnosis, patients can be cured for the rest of their lives," says Ravinder Singh, Ph.D., director of Mayo Clinic’s Endocrinology Laboratory in Rochester, Minnesota.
Infertility was devastating for Elyn, a social worker from a large family, and Guy, a fifth-grade teacher. "Coming to terms with the fact that we might never have children — it was a confusing period, kind of a limbo," Elyn says.
By 2018, Elyn's symptoms had grown beyond the infertility associated with PCOS. Her abdomen and face were rounded, and her shoulders were bigger. In addition to the headaches, sleep problems, and excess body hair, she had skin that easily bruised.
"I NOTICED MY APPEARANCE WAS CHANGING, AND IT WAS DEFINITELY A HIT TO MY SELF-ESTEEM," ELYN SAYS. "THE ONLY FIX FOR THE MIGRAINES WAS A TWO- OR THREE-HOUR NAP, A DARK ROOM, AND PEPPERMINT ESSENTIAL OIL. I THOUGHT I WAS A MEDICAL MYSTERY."
Symptoms like Elyn's can occur when a person's body has too much cortisol. A hormone produced in the adrenal glands, cortisol performs essential jobs, such as regulating blood pressure and metabolism, and helping the body cope with physical stress. But too much cortisol can cause problems, including infertility.
Laboratory tests of Elyn's saliva and urine confirmed high cortisol levels. An MRI revealed why: Elyn had a noncancerous tumor on her pituitary gland. Located at the base of the brain, the pituitary gland secretes a hormone called ACTH, which then stimulates the adrenal glands — located just above the kidneys — to produce cortisol.
A tumor can cause the pituitary gland to secrete too much ACTH. An additional lab test (Test ID: ACTH) confirmed that Elyn had elevated ACTH and Cushing's disease.
"The testing required for a diagnosis of Cushing's disease is complicated and requires a high level of expertise," Dr. Singh says. "The physical presentation of patients can be very similar to people who have hypertension, obesity, or other conditions that require different treatment versus real Cushing's."
Elyn's story was first published on the Mayo Clinic Laboratories blog. You can read the rest of Elyn's story here
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