Help me with this case

[ForbiddenComma]

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37 y/o white male, presents at clinic with abdominal striations and general malaise. Classic symptoms of hypercortisolism include moon facies, hyperglycemia (136), central obesity and HT (140/96). TSH normal. CBC normal. Psych profile indicates increased stress and possible EtOH abuse. FH includes a sister with Type 1 DM, nothing else of note. Denies steroid use. Only takes ASA for occasional stress headaches.

We think Cushing's, order tests but ACTH and cortisol are both way BELOW normal, in fact barely measurable. Both FP docs are stumped and refer to endocrinologist.

Obviously an endocrine problem but normal TSH argues against a pituitary issue. The low ACTH/cortisol is just bizarre with the symptoms. Will order prolactin but if that comes back normal, what then?

I'm thinking maybe ectopic production of a corticosteroid that mimics cortisol but is negative on labs. It would explain the negative feedback to the pituitary, but a) not sure what hormone that would even be and b) would mean a death sentence to the pt because we all know what ectopic hormone production means.

Any ideas?

 

[mesoderm]

Stress-induced pseudo-Cushing's?

 

[oudoc08]

Consider mild 11 Beta hydroxylase deficiency. It's rare, but it does happen.

 

[AlternateSome1]

Are the striations cushingoid or are they due to obesity? Everything you described, the HTN, the high blood sugar, the malaise, could be explained by his weight. Moon facies could be subjective, especially if the pt has a fat face. A POMC or MC4 mutation (~5% of obeise people) could explain the central adrenal insufficiency.

 

[dentate_gyrus]

Are the striations cushingoid or are they due to obesity? Everything you described, the HTN, the high blood sugar, the malaise, could be explained by his weight. Moon facies could be subjective, especially if the pt has a fat face. A POMC or MC4 mutation (~5% of obeise people) could explain the central adrenal insufficiency.

I heard at grand rounds the old school way to discern mooon-face from fat-face was to look at the pt head on. If you can see their ears they are just fat. No ears = Cushing's. I have no idea how usefull this actually is.

 

[babyruth]

You might want to try looking up alcohol abuse and hormonal imbalances. I thought I heard somewhere that ETOH abuse, esp. long term, can cause a cushing-like syndrome and appearance but am not sure. Plus it can give you the appearance you just described.

 

[AlternateSome1]

I heard at grand rounds the old school way to discern mooon-face from fat-face was to look at the pt head on. If you can see their ears they are just fat. No ears = Cushing's. I have no idea how usefull this actually is.

It would be interesting to see if there is a study on the sensitivity/specificity of this method...I am not sure I have the desire/energy to look it up right now though. 😉

 

[carrigallen]

Cortisol levels vary greatly throughout the day. The specific findings in cushings are the fat pad on the back and emaciated limbs with central fat.
If he were an inpatient, you'd probably get a CXR and 24-hr urine.

 

[toofache32]

Appendicitis.

 

[ForbiddenComma]

Thanks guys... I bet it is something simple such as stress+EtOH, but the adrenal insufficiency is boggling. maybe one of the aforementioned mutations?

I'll see what the docs say. It is outpatient so it might be a while unfortunately.