Newman CIS

Question 1

Baby girl has dry mucous membranes, had an episode of vomiting, and appears uncomfortable…. What enzyme is deficient?

Answer 1

21 hydroxylase

• you see virilization especially in girls
• this is why you really need to look at the genitals in a nursery

Question 2

What do you do for the baby? What is going on?

Answer 2

• adrenal crisis
• so treat that first with…… Hydrocortisone!.. You can’t deal with any kind of stress without cortisol
• fluids and steroids

Question 3

What labs will the baby have?

Answer 3

• 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!

Question 4

What do you order to confirm the diagnosis of CAH 21 hydroxylase deficiency?

Answer 4

17-OH progesterone level see

-that will build up because 21 usually breaks that down

Question 5

What was in red on the primary adrenal insufficiency (Addison disease)?

Answer 5

• result in decreased production of mineralocorticoids, glucocorticoids, and adrenal androgens, despite an increased concentration of ACTH***
• decrease in everything that the cortex makes

Question 6

What is the most common cause of Addison disease in the US?

Answer 6

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

Question 7

Adrenal dysgenesis … What was in red on that?

Answer 7

-familial glucose iconic deficiency (autosomal recessive)

Question 8

What is familial glucocorticoid deficiency

Answer 8

• 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

Question 9

CAH

Answer 9

• 21 deficiency is the most common
• deficiency of aldosterone(salt wasting)
• deficiency of cortisol
• excessive androgens (virilization of females)

Question 10

What will femal infants with 21 deficiency have?

Answer 10

Virilization genitalia

Question 11

Why do ppl who have adrenal insufficiency crave salt?

Answer 11

-because they keep losing all of it!

Question 12

Lab findings in primary adrenal insufficiency

Answer 12

• low Na+
• high serum K
• fasting hypoglycemia
• hypercalcemia may be present
• low 8AM plasma cortisol accompanied by simultaneous significant elevation of the plasma ACTH

Question 13

What is the confirmatory test for primary adrenal insufficiency?

Answer 13

Cosyntropin (synthetic ACTH) stimulation test

Question 14

What is required for a diagnosis of 21-hydroxylase deficiency?

Answer 14

Elevated serum levels of 17-OH progesterone are required for diagnosis

Question 15

Tx of primary adrenal insufficiency

Answer 15

• glucocorticoid replacement therapy: hydrocortisone, prednisone, prednisolone
• mineralocorticoid replacement therapy: fluorocarbons one

Question 16

Secondary adrenal insufficiency

Answer 16

• low serum ACTH in the setting of low serum cortisol is the give away
• “alabaster skin”

Question 17

What is Cushing disease?

Answer 17

-when there is Cushing syndrome due to an ACTH secreting pituitary adenoma

Question 18

What is that one carcinoma that also secretes ACTH?

Answer 18

Small cell carcinoma of the lung

Question 19

Where is the problem in ACTH independent Cushing syndrome?

Answer 19

The adrenals… It don’t care about yo damn ACTH, it’s going to do its thang anyways

Question 20

What is the most common cause of ACTH-Indy Cushing syndrome?

Answer 20

• exogenous corticosteroid use

- adrenocortical tumor was also in red

Question 21

Dexamethasone suppression test

Answer 21

• 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

Question 22

What is drawn before the dexamethasone is administered?

Answer 22

ACTH level!

Question 23

Adrenal incidentalomas

Answer 23

• adrenal nodules discovered incidentally on abdominal CT or MRI
• —-most are benign adrenal adenoma a

Question 24

What do all patients with an adrenal incidentalomas require?

Answer 24

-testing for pheochromocytoma with plasma fractionated free metanephrines

Question 25

Primary aldosteronism

Answer 25

• inappropriately high aldosterone secretion that does not suppress adequately with sodium loading
• they will be hypertensive (the resistant kind)
• hypokalemia

Question 26

Conn syndrome

Answer 26

• primary aldosteronism secondary to a unilateral aldosterone-producing adrenal adenoma
• 40% have a mutation in a gene coding for the potassium channel

Question 27

What is the most common cause of primary aldosteronism?

Answer 27

• unilateral or bilateral adrenal hyperplasia

- cardiovascular complications occur more frequently in hyperaldosteronism than in idiopathic hypertension***

Question 28

When should we test for primary aldosteronism?

Answer 28

-in all hypertensive pts with: hypokalemia, treatment resistant htn, early onset htn, low-renin htn, htn with an adrenal mass, htn with fam hx of early onset htn or CVA< 40 yo, 1st degree relative with aldosteronism

Question 29

What are pheochromocytomas and paraganglioma?

Answer 29

• both of them are tumors of the sympathetic nervous system
• para: malignant, secretes NE
• pheochromocytoma: secretes E… Usually fine

Question 30

What genetic thing do we have to know about pheo’s?

Answer 30

AUTOSOMAL DOMINANT-Von hipped-Lindau disease type 2

-hemangiomas and stuff like that

Question 31

Lab findings in pheochromocytoma

Answer 31

-plasma fractionated free metanephrines is the single most sensitive test for secretory pheochromocytomas and paragangliomas

Question 32

What is the treatment of choice for a pheo?

Answer 32

Resection

-watch out for abdomen being seeded during surgery: pheochromocytomatosis

Question 33

What medical treatment do we give to someone with a pheo?

Answer 33

• alpha blockers:
• phenoxybenzamine is a long acting nonselective alpha-blocker
• don’t use B blocker first…. Unopposed alpha is bad

Question 34

MEN

Answer 34

• auto dominant
• predisposition to the development of tumors in two or more different endocrine glands
• MEN2 and 3 are both associated with pheochromocytoma