Baby girl has dry mucous membranes, had an episode of vomiting, and appears uncomfortable…. What enzyme is deficient?
21 hydroxylase
- you see virilization especially in girls
- this is why you really need to look at the genitals in a nursery
What do you do for the baby? What is going on?
- adrenal crisis
- so treat that first with…… Hydrocortisone!.. You can’t deal with any kind of stress without cortisol
- fluids and steroids
What labs will the baby have?
- high K+
- low sodium… Due to low secretion of aldosterone
- along with the K+ you keep acid…. Acidosis (metabolic)
- BUN is high
- glucose is low because of the decrease in cortisol!
What do you order to confirm the diagnosis of CAH 21 hydroxylase deficiency?
17-OH progesterone level see
-that will build up because 21 usually breaks that down
What was in red on the primary adrenal insufficiency (Addison disease)?
- result in decreased production of mineralocorticoids, glucocorticoids, and adrenal androgens, despite an increased concentration of ACTH***
- decrease in everything that the cortex makes
What is the most common cause of Addison disease in the US?
80% autoimmune***
- in the world, it’s TB infection
- the X-linked recessive disorder of long chain FA metabolism (adrenaluekodystrophy and adrenomyeloneuropathy)…. The neuro deterioration may mimic multiple sclerosis
- Bilateral adrenal hemorrhage:: Waterhouse Fredericson syndrome
Adrenal dysgenesis … What was in red on that?
-familial glucose iconic deficiency (autosomal recessive)
What is familial glucocorticoid deficiency
- isolated cortisol deficiency
- ACTH resistance due to mutations in the adrenal ACTH receptors…. Increased ACTH causes skin pigmentation (alpha-MSH is excreted along with ACTH)
- autosomal recessive
CAH
- 21 deficiency is the most common
- deficiency of aldosterone(salt wasting)
- deficiency of cortisol
- excessive androgens (virilization of females)
What will femal infants with 21 deficiency have?
Virilization genitalia
Why do ppl who have adrenal insufficiency crave salt?
-because they keep losing all of it!
Lab findings in primary adrenal insufficiency
- low Na+
- high serum K
- fasting hypoglycemia
- hypercalcemia may be present
- low 8AM plasma cortisol accompanied by simultaneous significant elevation of the plasma ACTH
What is the confirmatory test for primary adrenal insufficiency?
Cosyntropin (synthetic ACTH) stimulation test
What is required for a diagnosis of 21-hydroxylase deficiency?
Elevated serum levels of 17-OH progesterone are required for diagnosis
Tx of primary adrenal insufficiency
- glucocorticoid replacement therapy: hydrocortisone, prednisone, prednisolone
- mineralocorticoid replacement therapy: fluorocarbons one
Secondary adrenal insufficiency
- low serum ACTH in the setting of low serum cortisol is the give away
- “alabaster skin”
What is Cushing disease?
-when there is Cushing syndrome due to an ACTH secreting pituitary adenoma
What is that one carcinoma that also secretes ACTH?
Small cell carcinoma of the lung
Where is the problem in ACTH independent Cushing syndrome?
The adrenals… It don’t care about yo damn ACTH, it’s going to do its thang anyways
What is the most common cause of ACTH-Indy Cushing syndrome?
- exogenous corticosteroid use
- adrenocortical tumor was also in red
Dexamethasone suppression test
- easiest screening test for Cushing syndrome
- tells us if it is ACTH dependent or independent
- give high dose of dexamethasone at night
- serum cortisol is drawn in the morning
- if cortisol is below a certain level, Cushing syndrome is excluded with some certainty
What is drawn before the dexamethasone is administered?
ACTH level!
Adrenal incidentalomas
- adrenal nodules discovered incidentally on abdominal CT or MRI
- —-most are benign adrenal adenoma a
What do all patients with an adrenal incidentalomas require?
-testing for pheochromocytoma with plasma fractionated free metanephrines
