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Year 2 Endo > Adrenal pathway dysfunction > Flashcards

Adrenal pathway dysfunction Flashcards

1
Q

What does the adrenal gland produce

A

Aldosterone
Cortisol
Androgens, oestrogen

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2
Q

Why are the numbers on cholesterol important?

A

We name the enzymes based on which carbon atoms on cholesterol they affect

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3
Q

What are the main actions of aldosterone?

A

Controls blood pressure
Retains sodium
Lowers potassium

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4
Q

What hydroxylases are involved in making aldosterone?

A

21, 11 and 18

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5
Q

What hydroxylases are involved in making cortisol?

A

17, 21,11

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6
Q

What rhythm does Cortisol have?

A

Diurnal

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7
Q

What is Addison’s disease?

A

Primary adrenal failure
Autoimmune
TB of the adrenal glands is the most common cause worldwide

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8
Q

What are the symptoms of Addison’s?

A

Increase pigmentations
Autoimmune viitiligo
No cortisol or aldosterone so low blood pressure

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9
Q

What are the three causes of Adrenocortical failure?

A

Congenital adrenal hyperplasia

TB Addison’s

Autoimmune Addison’s

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10
Q

What is POMC?

A

Pro-opio-melanocortin

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11
Q

Why does Addison’s cause a tan?

A

POMC is a large precursor protein that is cleaved to form a number of smaller peptides, including ACTH, MSH and endorphins

Thus people who have pathologically high levels of ACTH may become tanned

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12
Q

How does Addison’s present acutely?

A

Fall in blood pressure
Loss of salt in the urine
Increased plasma potassium
Fall in glucose due to glucocorticoid deficiency
High ACTH resulting in increased pigmentation

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13
Q

What are other symptoms of Addison’s?

A 
Darkening of hair
Weight loss  - anorexia, diarrhoea, vomiting
Muscular weakness
Pigment accentuation at nipples
Vitiligo
Freckling
Mucous membrane pigmentation
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14
Q

What is the treatment for Addison’s?

A

IV hydrocortisone

Oral steroid replacement

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15
Q

What are the tests for Addison’s?

A

9am cortisol = low
ACTH = high
Short synACTHen test

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16
Q

What is the Short synACTHen test?

A

Give 250 ug synACTHen
IM
Measure cortisol response

17
Q

What cortisol levels are seen on a typical Addison’s patient?

A

Cortisol at 9am = 100 (270-900)
Administer injection IM of synacthen
Cortisol at 9.30 = 150 (>600)nM
Levels will eventually go to 0 if left untreated

18
Q

Why can you not give a aldosterone tablet?

A

Half life of aldosterone is too short (20 mins) for safe once daily administration

19
Q

What do we give to replace aldosterone?

A

Fluorine does not exist in natural steroids, so its presence slows metabolism substantially.
Binds to both MR and GR

Fludrocortisone half life 3.5h and
effects seen for 18h.
50-100mcg once daily

20
Q

How do we replace cortisol?

A

Oral hydrocortisone

Has a short half life: too short for once daily administration

8am
12pm
5pm

21
Q

Why is oral hydrocortisone problematic?

A

Peaks are too high and harmful

Disrupts sleep

22
Q

What is used more commonly now to replace cortisol?

A

3-4mg of prednisolone once daily

23
Q

What is the problem with prednisolone?

A

Cannot get a 3mg tabled of predisonlone

Have to take 1mg x3
3 1/4 of a 5mg tablet

24
Q

Summaries the treatment of adrenal failure

A

Hydrocortisone three times daily (10 + 5 + 2.5)
OR
Prednisolone 3mg daily

Fludrocortisone 50 to 100 mcg daily

25
Q

What is congenital adrenal hyperplasia?

A

Commonest is caused by
21-hydroxylase deficiency
(missing gene)

Can be complete or partial
Born without aldosterone and cortisol

Survive in utero because mother gives steroids via placenta

26
Q

What happens before birth?

A

Huge adrenal glands

High ACTH production

27
Q

How do you treat congenital adrenal hyperplasia?

A

Replacement

28
Q

What also happens in congenital adrenal hyperplasia?

A

Make huge amount of sex steroids

In females
Virilised by adrenal testosterone
- labial fusion
- ambiguous genitalia

In males
Missed as there is no obvious visual presentation

29
Q

How long can you survive with complete 21 hydroxyls deficiency?

A

Less than 24 hours without treatment

30
Q

What does partial 21 hydroxylase deficiency mean?

A

Partial 21 hydroxylase deficiency means that there will be a bit of aldosterone and cortisol to get by with

Large excess of testosterone

31
Q

When do patients with partial 21 hydroxylase present?

A

At any age

Go through precocious puberty

32
Q

What are the main features of partial 21 hydroxylase deficiency in later life?

A

Main problem in later life is hirsutism and virilisation in girls and precocious puberty in boys due to adrenal testosterone

33
Q

What are features of females with partial 21 hydroxylase deficiency?

A 
Small breasts
Facial hirsutism
Receding hair line baldness
Male escutcheon
Heavy muscular appearance
34
Q

What happens with 11 hydroxylase deficiency?

A

11 deoxycorticosterone behaves like aldosterone

In excess it can cause hypertension and hypokalaemia

35
Q

What hormones are in excess with 11 hydroxylase deficiency?

A

Sex steroids and testosterone and 11-deoxycorticosterone

36
Q

What are the problems with 11 hydroxylase deficiency?

A

Virilisation, hypertension and low K

37
Q

What happens with 17 hydroxylase deficiency?

A

11-deoxycorticosterone and aldosterone (mineralocorticoids)

38
Q

What are the problems with 17 hydroxylase deficiency?

A

Hypertension, low K, sex steroid deficiency (no puberty) and glucocorticoid deficiency (low glucose).

39
Q

What are the treatments for congenital adrenal hyperplasia?

A

Single morning does of prednisolone 3mg is the equivalent dose to 20mg of hydrocortisone

Year 2 Endo (15 decks)

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