Lec 13 Adrenal Hyperplasia

Question 1

What is the differential diagnosis of primary aldosteronism?

Answer 1

• solitary aldosterone secreting adenoma [1/3]
• bilateral nodular drenal hyperplasia [2/3]
• genetic disorder [1%]
• adrenal enzyme defect causing high mineralocorticoid secretion [11-hydroxylase deficiency or 170hydroxylase deficiency]

Question 2

What is a syndrome of apparent mineralocorticoid excess?

Answer 2

neither DOC [Deoxycorticosterone precursor to aldosterone] or aldosterone are elevated

cortisol either made in excess or not properly inactivated in kidney to cortisone and is acting as a mineralocorticoid [11 beta-HSD deficiency]

Question 3

What is adrenal insufficiency?

Answer 3

addisons disease = destruction of all 3 paths of steroid production in adrenal gland

Question 4

What is congenital adrenal hyperplasia?

Answer 4

enzyme deficiencies cause decreased levels of some adrenal steroids and increases of other proximal to the block

Question 5

What are feedback mech of cortisol?

Answer 5

cortisol decreases CRH, ACTH, and adrenal cortisol secretion

Question 6

What are things that cause increased aldosterone?

Answer 6

renin –> angiotensin –> aldosterone

• low volume
• high Na
• high K

Question 7

What is effect of aldosterone excess?

Answer 7

• hypertension
• hypokalemia
• hyper-NA
• volume excess

Question 8

What is escape phenomenon with hypertenison?

Answer 8

as high BP and volume in high aldosterone –> stimulates ANF [atrial natriuretic factor] in heart and modulates clinical effect

Question 9

What percentage of cases of hypertension with hypokalemia are associated with primary aldosteronism?

Answer 9

up to 50%

Question 10

What should you screen for in all patients with new onset or resistant hypertension?

Answer 10

primary aldosteronism

Question 11

What is inheritance pattern of congenital adrenal hyperplasia?

Answer 11

autosomal recessive; usually accompanied by oversecretion of androgens with virilization

blockage of glucocorticoid synthesis stimulates ACTH and androgen overproduction

Question 12

What is the most common defect in congenital adrenal hyperplasia?

Answer 12

21 hydroxylase deficiency

Question 13

Where is the defect in 21 hydroxylase deficiency?

Answer 13

short arm of chr 6

Question 14

How do you determine the source of excess aldosterone?

Answer 14

selective adrenal venous catheterization to compare local levels of aldosterone

Question 15

What is treatment for aldosteronoma?

Answer 15

spironolactone or epleronone = aldosterone antagonists

Question 16

What happens to levels of mineralocorticoids, cortisol, and sex hormones in 21 hydroxylase deficiency? any other lab changes?

Answer 16

• decreased mineralocorticoids
• decreased cortisol
• increased sex hormones
• hypotension
• hyperkalemia
• increased renin activity
• increased 17-hydroxy-progesterone
• hyponatremia

Question 17

how does 21 hydroxylase present?

Answer 17

• in infancy with salt wasting

- in childhood wirh precocious puberty or clitoral enlargement

Question 18

What is the salt wasting form of 21 hydroxylase?

Answer 18

• no 21 hydroxylase activity
• can present in male or female
• low aldosterone –> hyponatremia, hyperkalemia, volume depletion, increased renin
• high 17-OH progesterone

Question 19

How does 21-hydroxylase present in female in utero?

Answer 19

• virilization can start by 6 weeks
• have cliteral enlargement
• failure of vesico-vaginal septum

Question 20

How does 21-hydroxylase deficiency present in female post-natal?

Answer 20

• cliteromegaly
• amenorrhea
• hirsuitism, more musculature
• short stature due to premature epiphyseal closure

Question 21

How does 21 hydroxylase deficiency present in adolescence?

Answer 21

acquire = late onset

looks like polycystic ovarian syndrome