Cushing's Disease: A Rare Diagnosis
Cushing’s disease requires expert care — from diagnosis to treatment
July 17, 2026
4 minute read
Cushing’s disease requires expert care — from diagnosis to treatment
Samantha Somsak, of Oak Creek, struggled with insomnia, weight gain, irregular menstrual periods and constant stress, which she initially attributed to her intense work schedule as she juggled multiple jobs to provide for her young daughter. She eventually consulted her primary care physician and obstetrician- gynecologist, but her lab tests and physical exams did not turn up anything out of the ordinary.
Then Samantha’s symptoms snowballed: She put on 30 pounds in just a few weeks and developed worsening acne, bruising, uncomfortable swelling in her legs, a painful breast infection and even unexpected lactation.
“I knew something was wrong, and I luckily had doctors who didn’t brush it off,” she said. “They were willing to look for answers.”
Samantha was referred to Adriana Ioachimescu, MD, PhD, endocrinologist and Medical College of Wisconsin faculty member. Dr. Ioachimescu suspected Samantha might have Cushing’s disease, a rare disorder that affects up to eight people out of a million each year, or about 48 new cases in Wisconsin annually. Cushing’s disease most frequently affects women ages 20 to 49, but can happen in both genders at any age. The condition is caused by a benign tumor in the pituitary gland, a small gland that sits at the base of the brain and regulates hormone levels, which in turn affect many bodily functions.
The symptoms of Cushing’s disease, including weight gain, fatigue, mental fog and hypertension, can also overlap with more common conditions. That means it often takes patients three to four years before they get a correct diagnosis.
“This is probably the most challenging endocrine disorder to diagnose,” Dr. Ioachimescu said. “But untreated, Cushing’s disease is associated with more than double mortality through cardiovascular and cerebrovascular disease, metabolic complications and infections. It’s a complex situation requiring a high level of expertise.”
Tests showed that Samantha had very elevated cortisol levels, which can be caused by stress or a physical issue. An MRI revealed a tiny, 6-millimeter tumor in Samantha’s pituitary gland, but pituitary tumors are relatively common and do not always cause problems. Dr. Ioachimescu needed to ensure that the true cause of Samantha’s symptoms was not a tumor in another part of her body.
To confirm the diagnosis, Marc Lazzaro, MD, interventional neurologist and MCW faculty member, conducted a specialized procedure called inferior petrosal sinus (IPS) sampling, which tests hormones from veins that drain the pituitary gland. The results showed that Samantha’s pituitary tumor was driving her high cortisol levels — the Cushing’s disease diagnosis was correct.
“I was relieved but scared,” Samantha said. “I was emotional because I was afraid I might die.”
In May 2024, Samantha had surgery at Froedtert Hospital, the academic medical center of the Froedtert & MCW health network. Stephanie Cheok, MD, neurosurgeon and MCW faculty member, and Lauren North, MD, otolaryngologist and MCW faculty member, performed a minimally invasive surgery to remove the tumor using an endoscope (a thin tube with a light and camera) inserted through Samantha’s nose and sinuses.
“The nose provides a direct path to the base of the skull, where the pituitary gland sits,” Dr. Cheok said. “Our reach is unparalleled with these new instruments, and with the visualization from the camera, we don’t have to go through the brain to get to the pituitary gland. In general, the complication rate is low, and patients do well after surgery.”
After Samantha’s surgery, her cortisol levels plummeted, causing a condition called adrenal insufficiency. For 14 months, she took a steroid medication to replenish her cortisol until her own hormone levels normalized. Gradually, her symptoms began to improve.
Cushing’s disease can recur in up to 20% of cases, and Samantha continues to see Dr. Ioachimescu and Dr. Cheok for monitoring.
“Samantha is a trooper,” Dr. Ioachimescu said. “She went through all of this with extraordinary determination and a positive attitude.”
The Froedtert & MCW team is committed to advancing Cushing’s disease care through clinical research. Researchers are exploring long-term effects of excess cortisol, including the impact on patients’ mental health and cognition, and studying what distinguishes the cases where pituitary tumors return.
In the meantime, Samantha is grateful to finally feel like herself again. The experience motivated her to pursue her dream of becoming an esthetician, and she opened a skin care studio in 2025. She also continues to enjoy time with her daughter. And while Samantha is always worried that Cushing’s disease might return, she knows she is in good hands with her highly specialized team.
“I love all of my doctors,” Samantha said. “Honestly, I couldn’t have asked for a better team to take care of me.”
It is important for people with Cushing’s disease to be treated by experienced pituitary endocrinologists, like those within the Froedtert & MCW health network. For an appointment, call 414-777-7700.
