Hypoadrenal disorders

Question 1

How many carbons does cholesterol have?

Answer 1

27

Question 2

How do you get different substances from cholesterol?

Answer 2

You hydroxylate it at different positions

Question 3

What is the most common cause of adrenocortical failure worldwide?

Answer 3

Tuberculous Addison’s disease–common in developing

Question 4

What is the most common cause of adrenocortical failure in the UK?

Answer 4

Autoimmune Addison’s disease- immune system makes a mistake and wipes out adrenal gland

Question 5

What is congenital adrenal hyperplasia?

Answer 5

When you are born with big adrenal glands and that is caused by enzyme deficiency so the adrenals can’t make the hormones properly

Question 6

How do Addison’s patients present?

Answer 6

They have darker hair, increased skin pigmentation and in scars and gums and patches of vitiligo (not unique for Addisons just indicates an autoimmune disorder), exhaustion (reduced cortisol), weight loss,

Postural hypotension

Question 7

Where is vitiligo also seen

Appearance of adrenal glands

What are the consequences of adrenal failure?

Answer 7

Addisons, primary hypotension, Graves-> hypertension

Appearance of adrenal glands:
If due to autoimmune- Shrunk
If due to TB- granulatamous
Destruction of adrenal cortex only really affects aldosterone and cortisol
-Androgens less so as they are primarily made at gonadal organs

Fall in blood pressure- no aldosterone
Loss of salt in urine- unable to retain salt due to lack of aldosterone
Increased plasma potassium
Fall in blood glucose- glucocorticoid deficiency
High ACTH resulting in increased pigmentation (ACTH–> Cortisol)
Eventual death due to severe hypotension- if it happens suddenly its an Addisonian crisis

Question 8

What are the two components of POMC (pro-opiomelanocortin)

Answer 8

ACTH and MSH

Question 9

Explain the link between adrenal failure and increased pigmentation?

Answer 9

Due to adrenal gland failure, there is no cortisol which means that there is no negative feedback on ACTH so there is high ACTH and ACTH is formed in the pituitary by POMC being broken down into ACTH and MSH so there is also high MSH and increased pigmentation

Question 10

How do you test for Addison’s?

Answer 10

Measure the hormones at 9 am and their cortisol should be high, if it’s not they might have Addison’s
You could measure their ACTH and that should be really high
You could inject them with synthetic ACTH (synacthen) and they should make a lot of cortisol in response if normal

Question 11

How does the 9am cortisol of an Addison’s patient compare to the normal range?

Answer 11

Low- around 100 (normal is 270-900)

Question 12

What is the commonest cause of congenital adrenal hyperplasia?

Answer 12

21-hydroxylase deficiency

Question 13

Is congenital adrenal hyperplasia evident in utero?

Answer 13

No because you receive the hormones from your mother

Question 14

What hormones can someone with 21-hydroxylase not produce?

Answer 14

Cortisol and aldosterone

Question 15

What happens to sex steroids in someone with 21 hydroxylase deficiency?

Answer 15

They can still make them because there is an overflow of 17-hydroxyprogesterone, they will make a lot of sex steroids but can’t make anything else

Question 16

What happens if cortisol and aldosterone are completely absent?

Answer 16

few weeks

Question 17

What is the first thing a doctor would do to treat congenital adrenal hyperplasia?

Answer 17

Give IV saline- good because you’ve lost salt

Question 18

Why do congenital adrenal hyperplasia have genital defects?

Answer 18

Excess testosterone- especially noticeable in girls

Question 19

How does congenital adrenal hyperplasia present?

Answer 19

Hypotension
Virilisation
Abnormality of genitalia

Question 20

What is virilisation?

Answer 20

Development of male characteristics in a female

Question 21

What happens in partial 21-hydroxylase deficiency? which hormones are deficient, which hormones are in excess

What happens as a result of this deficiency in boys

Answer 21

You’ll have low cortisol and aldosterone and be a little hypotensive but won’t die and will have a long period of slightly raised testosterone

Excess of sex steroids, testosterone,

Precocious puberty in boys

Question 22

What happens in 11 beta hydroxylase deficiency? which hormones are in excess and which hormones are deficient
present with

Function of aldosterone

Aromatase used for the conversion of what to what

Aldosterone produced from what

Answer 22

You get build up of 11 deoxycorticosterone
and sex steroids and testosterone
Deficient in cortisol and aldosterone

virilisation, hypertension and low k

Absorp Na

Testosterone to oestrogen

Angiotensin 2

Question 23

What is 11 deoxycorticosterone?

Answer 23

precursor to aldosterone, behaves like aldosterone

in excess causes hypertension and hyperkalaemia

Question 24

How does 11 beta hydroxylase deficiency present?

Answer 24

You don’t have a salt losing Addisonian crisis but behave like they have a high level of aldosterone due to high 11 deoxycorticosterone (precursor of aldosterone) so:
Hypertensive in childhood
Hypokalaemic
Virilised

Question 25

What happens in 17 beta hydroxylase deficiency? which hormones are deficient

Hormones in excess

Answer 25

Cortisol and sex steroids

High aldosterone and 11 deoxycorticosterone

High levels of aldosterone (hypertensive and hypokalaemic) but no cortisol and sex steroids so will never go through puberty and are borderline hypoglycaemic (deficient glucocorticoid)