WTF?

I did a presentation to my division this week on a mystifying case.

It was one of those WTF cases. Ie, you start off thinking the patient has one thing, order a test and when the results come back you go What The F*ck????

It was a nice lady in her 40's who was seen here previously for primary aldosteronism some years back. Although her adrenal CT clearly showed a 1.2 cm nodule on one adrenal, the other was 'lumpy' as well and so she underwent an adrenal vein sampling. Which didn't quite lateralize enough for the surgeon to want to operate (2.3:1). And so, I see her 5 years later for follow-up.

Doing well on spironolactone. Her doctors back home did a CT, and then a PET (for unclear reasons) which showed some uptake in the adrenal, as well as one side of the thyroid.

When I saw her, she didn't quite look right. Big nose, maybe. Big hands too, maybe? Or maybe it was just the typical Midwestern habitus?

It was one of those cases when you ordered the tests to 'cover your ass', so to speak. We thought the PET thyroid abnormality was from Hashimoto's (she didn't have a palpable nodule), but to be safe we did a thyroid ultrasound. And because we entertained the thought of acromegaly, though however unlikely, I decided to check an IGF-1.

A panel of tests, a thyroid ultrasound + FNA and MRI later, it turns out she has (in addition to primary aldosteronism) acromegaly from a GH-producing pituitary macroadenoma, and papillary thyroid cancer.

Our thyroid surgeon took out her thyroid gland, and 6 days later our neurosurgeon did a transphenoidal resection of her pituitary adenoma. She left the hospital a day later; last I heard she's doing well and will be coming back to see me again in a few months.

But for the life of me, I'm stumped. I'm sending her to see the medical geneticist when she next returns to see if this is possibly Carney Complex. By conventional criteria, she does fulfil the requirements but something just seems very unusual here. Nonetheless, it was a fascinating case.