Adrenal

Question 1

How to interpret adrenal vein sampling? (3)
Selectivity indices?
Lateralization index?

Answer 1

1. Does the patient have primary aldosteronism?
2. Are the catheters located in the adrenal veins? Selectivity index = “adrenal vein” cortisol/peripheral vein cortisol
   Selectivity index >2 without cosyntropin
   Selectivity index >3 with cosyntropin
3. What is the ratio of aldosterone/cortisol ratios?
   Lateralization index >4 (very stringent)

Question 2

The recommended functional evaluation of an incidentally discovered adrenal mass includes? (3)

Answer 2

1. measurement of plasma or urinary metanephrines to exclude pheochromocytoma
2. overnight dexamethasone suppression test to exclude hypercortisolemia
3. measurement of plasma renin and serum aldosterone to exclude primary aldosteronism (only in hypertensive patients)

Question 3

1. Overt, clinically manifested excess of more than one active steroid, such as glucocorticoid and androgen excess, is characteristic of?
2. Adrenal carcinomas tend to be relatively deficient in?

Answer 3

1. adrenal cancer
2. 11 beta-hydroxylase activity –> elevated 11-deoxycortisol and upstream intermediates

Question 4

the elevation of DHEA-S in parallel to testosterone and the 11-deoxycortisol elevation is almost pathognomonic for?

Answer 4

adrenocortical carcinoma

Question 5

Macronodular adrenocortical hyperplasia:
1. typical manifestation?
2. DHEA-S is typically?

Answer 5

1. pure cortisol excess. Mineralocorticoid excess is due to cortisol and parallels cortisol production
2. normal (rather than suppressed)

Question 6

In ovarian hyperthecosis:
1. typical timeline?
2. How are testosterone and DHEAS levels affected?

Answer 6

1. onset is more insidious than adrenocortical carcinoma.
2. Testosterone levels are not as elevated as ACC. More importantly, DHEA-S is usually not significantly elevated

Question 7

1. In primary hyperaldosteronism, effective MR antagonist therapy should result in?
2. biomarkers suggestive of adequate renal MR blockade in primary aldosteronism include?

Answer 7

1. contract intravascular volume to lower blood pressure, decrease glomerular hyperfiltration, and minimize urinary potassium excretion
2. decreased blood pressure, increased serum potassium, increased renin activity from suppressed to unsuppressed, and decreased estimated glomerular filtration rate

Question 8

What is the best parameter for diagnosing nonclassic 3beta-hydroxysteroid dehydrogenase/isomerase deficiency?

Answer 8

17-hydoxypregnenolone-to-cortisol ratio

Question 9

primary aldosteronism:
1. for aldosterone-to-renin ratio, what is a clearly positive screen?
2. what is a normal screen?

Answer 9

1. > 20
2. < 4

*when the renin level is low (<1), the aldosterone-to-renin ratio is generally valid
*prior to screening, it is important to correct for hypOkalemia since low K impairs aldosterone production

Question 10

Congenital Adrenal Hyperplasia:
What is elevated in 17 alpha-hydroxylase deficiency?
Gene?

Answer 10

High mineralocorticoids. Deficient androstenedione and estradiol.
CYP17A1

Question 11

Congenital Adrenal Hyperplasia:
What is elevated in 11 beta-hydroxylase deficiency?
Gene?

Answer 11

High 11-deoxycortisol and 11-deoxycorticosterone
CYP11B1

Question 12

Congenital Adrenal Hyperplasia:
What is LOW in 3 beta-hydroxysteroid dehydrogenase deficiency?
Gene?

Answer 12

LOW cortisol, aldosterone, androstenedione (all layers).
HSD3B2

Question 13

Congenital Adrenal Hyperplasia:
What is elevated in 21 hydroxylase deficiency?
Gene?

Answer 13

High 17 alpha-hydroxyprogesterone.
CYP21A2