Two new cases of Cushing’s syndrome in the same afternoon: Part 2

The next patient I saw that same afternoon was a 22-year-old woman sent to me to “rule out possible Cushing’s.”

I told the family practice resident following me this month, “What do you think our chances will be of seeing two new onset cases in the same afternoon? Pretty unlikely, but we’ll see.”

This woman had seen her gynecologist one month earlier complaining of menstrual irregularity, thinning of hair, weight gain, muscle weakness and purple striae. Her gynecologist immediately and astutely suspected Cushing’s syndrome. She advised her to go see her primary care physician assistant for further evaluation.

The physician assistant found hypertension and began an ACE inhibitor. She had mild hypokalemia, elevated fasting glucose and an LDL cholesterol of 231 mg/dL. The physician assistant also suspected Cushing’s syndrome and sent the patient to me.

The resident and I were struck by her rounded face as soon as we walked into the room. It was markedly changed from her driver’s license photo taken in 2008. She had large purple stretch marks and central fat deposition but was not obese. She weighed 166 lb. An a.m. cortisol was 25 (upper limits of normal, 25), and adrenocorticotropic hormone was undetectable.

Her excellent primary care physician assistant had already performed dexamethasone-suppression study before her consultation with me. Her cortisol the following morning was 31.4.

I told her, “You do not have ‘possible Cushing’s.’ You HAVE Cushing’s!”

Unfortunately, I also found total testosterone of 183 (normal female range 8-60) and dehydroepiandrosterone sulfate was 748 (upper limits of normal, 332). I explained to her and her mother that I am concerned she may have an adrenal mass, cosecreting cortisol and androgens. If that is true, it is very worrisome for adrenocortical carcinoma. She is having her adrenal CT today. Time is of the essence; a few additional labs are pending, but we cannot delay treatment once we have confirmed the diagnosis and source.

Too often people with Cushing’s syndrome have symptoms for months or even years before their concerns are finally heard and the diagnosis considered. Too often they are told they need to work harder on their diet and exercise more. Too often physicians think that in order to have Cushing’s, one must be morbidly obese and look like a picture from a medical reference textbook.

The first case I described in part 1 of this series of posts was not obvious by physical exam findings, but the primary care physician still asked for my opinion. The second case above was more symptomatic, but I have seen much worse cases missed (including that case of adrenocortical carcinoma I posted about last month).

Both of these two women were fortunate to have physicians and a physician assistant who did not make those mistaken assumptions. They listened to their patients and did not brush aside their concerns. Instead they considered a diagnosis that is uncommon.

How many other cases of undiagnosed Cushing’s are out there? Too many.