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Year 2 - Endocrinology > Hypoadrenal Disorders > Flashcards

Hypoadrenal Disorders Flashcards

1
Q

Starting precursor for steroid synthesis?

A

Cholesterol

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2
Q

What are the 3 main pathways in steroid synthesis

A

Mineralcorticoids - aldosterone

Glucocorticoids - cortisol

Androgens - sex steroids

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3
Q

Main enzyme group resulting in the different structures forming in steroid hormone biosynthesis?

A

Dehydrogenases

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4
Q

Which of the pathways in steroid synthesis is not as important?

A

Androgens - main source is the gonads NOT the adrenal!

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5
Q

Which hormones are under ACTH control?

A

Cortisol & Androgens

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6
Q

Which hormone is NOT under ACTH control?

A

Aldosterone - AGTII controls it

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7
Q

Which enzymes should be remembered in the steroid synthesis pathway (ONENOTE!!)?

A

17, 21, 11 & 18

HYDROXLYASES

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8
Q

2 causes of adrenocortical failure?

A
  1. Adrenal glands are destroyed (develop this)

2. Enzymes in the steroid synthetic pathway do not work (born with)

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9
Q

3 potential causes of adrencortical failure when the adrenal glands are destroyed?

A
  1. TB causes Addison’s disease (common in developing)
  2. Autoimmune causes Addison’s (common in developed)
  3. Congenital adrenal hyperplasia
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10
Q

Signs & symptoms of adrenocortical failure?

A

Loss of aldosterone:

  • Hypotension
  • Loss of salt in urine
  • Hyperkalaemia

Loss of cortisol:

  • Hypoglycaemia
  • Hyperpigmentation [POMC –> ACTH + MSH] (as high ACTH)

Eventual death due to severe hypotension

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11
Q

Vitaligo?

A

Destruction of melanocytes (not just specific to Addison’s)

Shows have AUTOIMMUNE dysfunction

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12
Q

What happens to the adrenal medulla in adrenocortical failure?

A

It is UNAFFECTED - only ACTH is attacked due to autoimmune

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13
Q

What is POMC broken down into?

A

ACTH + MSH

And endorphins, enkephalins and other peptides

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14
Q

Common indication if have Addison’s when seen in hospital?

A

LOW Na+

HIGH K+

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15
Q

Initial test for Addison’s?

A

9am cortisol = LOW (should be high)

ACTH = HIGH

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16
Q

Test carried out for Addison’s followed by the initial test?

A

Short synacthen test

synACTHen

17
Q

How does the short synacthen test work?

A

Synacthen - synthetic ACTH

Injection of 250ug of synacthen IM - this is a large dose so should induce a LARGE response in healthy individuals

18
Q

What will be seen in the short synacthen test in a person suffering from Addison’s?

A

Cortisol SHOULD increase

If cortisol response barely changes (i.e. 100 to 150) confirms Addison’s

19
Q

CAH?

A

Congenital Adrenal Hyperplasia

2nd cause of adrencocortical failure

20
Q

4 types of CAH?

A

x Complete 21-hydroxylase deficiency

x Partial 21-hydroxylase deficiency

x 17-hydroxylase deficiency

x 11-hydroxylase deficiency

21
Q

What does complete 21-hydroxylase deficiency lead to?

A

NO production of aldosterone OR cortisol

EXCESS of sex steroids (no -ve feedback)

22
Q

Most common cause of CAH?

A

COMPLETE

21-hydroxylase deficiency

23
Q

Age of presentation of complete 21-hydroxylase deficiency?

A

Present in neonates - as a salt-losing Addisonian crisis

Before birth, in utero - fetus receives steroids from mother across placenta so not an issue

24
Q

Survival rate and presentation in those with complete 21-hydroxylase deficiency?

A

Survival - <24hrs

Girls present more obviously - virilisation (ambiguous genitalia due to excess testosterone) & may have clitoromegaly

25
Q

What does partial 21-hydroxylase deficiency lead to?

A

Deficient in cortisol & aldosterone

Excess in sex steroids & testosterone

26
Q

Age of presentation of partial 21-hydroxylase deficiency?

A

Any age - as they survive

27
Q

Survival rate & presentation in those with partial 21-hydroxylase deficiency?

A

Main problem occurs later in life:
x Girl - hirsutism & virilisation

x Boy - precocious puberty

28
Q

Signs and symptoms of parital 21-hydroxylase deficiency?

A 
x Acne
x Facial hirsutism
x Small breasts
x Clitoral enlargement
x Heavy arms/legs

*adrenal gland enlarges as excess ACTH!

29
Q

What is special about 11 deoxycorticosterone?

A

Behaves like aldosterone!

Hence, in excess can cause hypertension & hypokalaemia

30
Q

What does 11-hydroxylase deficiency lead to?

A

Deficiency in cortisol & aldosterone

Excess is sex steroids, testosterone & 11-deoxycorticosterone

31
Q

Signs and symptoms of 11-hydroxylase deficiency?

A

x Virilisation
x Hypertension
x Hypokalaemia

32
Q

What does 17-hydroxylase deficiency lead to?

A

Deficiency in cortisol & sex steroids

Excess in 11-deoxycorticosterone & aldosterone

33
Q

Signs and symptoms of 17-hydroxylase deficiency?

A

x Hypertension
x Hypokalaemia
x Sex steroid deficiency
x Glucocorticoid deficiency (leading to hypoglycaemia)

Year 2 - Endocrinology (19 decks)

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