hypoadrenal disorders

Question 1

what is always the steroid precursor?

Answer 1

cholesterol

Question 2

what are the 3 main pathways in synthesis?

Answer 2

• cortisol
• aldosterone
• sex steroids

Question 3

describe the pathways

Answer 3

see diagram

Question 4

what are the causes of adrenocortical failure?

Answer 4

adrenal glands destroyed:
- TB addisons
- AI addisons
- congenital adrenal hyperplasia (gland overgrows but does not function properly)
enzymes in steroid synthetic pathway not working

Question 5

what are the symptoms of adrenocortical failure?

Answer 5

• hypotension
• loss of salt in urine
• hyperkalameia
  all due to loss of aldosterone
• hypoglycaemia
• high ACTH (hyperpigmentation)

Question 6

describe the blood levels of an Addison’s suffering patient

Answer 6

9am cortisol = 100 (normal = 270-900)

ACTH high

Question 7

what test do you use to diagnose addison’s?

Answer 7

• short synacthen test
• give synacthen (synthetic ACTH) IM
• large dose, should induce large response in normal person
• if cortisol response barely changes, have addisons

Question 8

what are the 4 types of congential adrenal hyperplasia?

Answer 8

• complete 21 hydroxylase def
• partial 21 hydroxylase def
• 11 hydroxylase def
• 17 hydroxylase def

Question 9

what does complete 21 hydroxyalse def lead to?

Answer 9

• NO production of aldosterone or cortisol

- EXCESS of sex steroids

Question 10

what is the presentation of complete 21 hydroxylase def?

Answer 10

• children present at 1 week
• in form of salt losing Addisonian crisis
• in utero, child is fine because receives steroids from mother
• girls present more obviously than boys = ambiguous genitalia

Question 11

what are the hormones deficient and in excess in partial 21-hydroxylase def?

Answer 11

def: cortisol and aldosterone
excess: sex steroids and testosterone

Question 12

what is the age of presentation of this?

Answer 12

• any age as they survive

- main problem is in later life with hirsutism and virilisation in girls and precocious puberty in boys

Question 13

what are the signs and symptoms of partial 21 hydroxylase def?

Answer 13

• acne
• facial hirsutism
• small breasts
• clitoral enlargement
• heavy arms/legs

Question 14

what does 11-deoxycortisone behave like?

Answer 14

aldosterone

so in excess can cause HT and hypokalaemia

Question 15

what are the hormones deficient and in excess in 11 hydroxyalse def?

Answer 15

def: cortisol and aldosterone
excess: sex steroids, testosterone, 11-deoxy corticosterone

Question 16

what are the signs and symptoms of 11 hydroxyalse def?

Answer 16

• virilisation
• hypertension
• hypokalaemia

Question 17

what are the hormones deficient and in excess in 17 hydroxyalse def?

Answer 17

deficient: cortisol and sex steroids
excess: 11-deoxy corticosterone and aldosterone

Question 18

what are the signs and symptoms of 17 hydroxyalse def?

Answer 18

• hypertension
• hypokalaemia
• sex steroid def
• glucocorticoid def