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4 RED > 2 Adrenal function > Flashcards

2 Adrenal function Flashcards

1
Q

What is the main cause of CAH?

A

21-hydroxylase deficiency

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2
Q

What does 21-hydroxylase deficiency do?

A

inhibited cortisol production
more ACTH
more adrenal androgens

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3
Q

What might androgen XS be a characteristic of?

A

46 XX disorder of sex differentiation

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4
Q

What might be elevated in the blood in CAH?

A

17OHP

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5
Q

What is the main phenotypic characteristic of 46 XX DSD?

A

virilisation of female genitalia

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6
Q

What are the 3 types of CAH?

A

classic CAH - salt wasting
classic CAH - simple virilising
non-classic CAH

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7
Q

What is salt wasting classic CAH?

A

GC and MC deficiency

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8
Q

What is simple virilising classic CAH?

A

GC deficiency

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9
Q

What is non-classic CAH?

A

slight GC deficiency

resembles PCOS

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10
Q

What dictates the phenotyping of CAH?

A

whichever allele carries the less severe mutation is expressed

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11
Q

What 2 things do you do to treat CAH?

A

replace deficient corticosteroids

suppress ACTH-driven androgen XS

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12
Q

What new technology is being used to suppress ACTH-driven androgen XS?

A

modified release hydrocortisone

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13
Q

How might giving too much GC to female CAH cause infertility?

A

LH and FSH suppression

oligo/amenorrhea

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14
Q

How might giving too little GC to female CAH cause infertility?

A

androgen + progesterone XS

Anovulation, oligomenorrhea, failure to implant

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15
Q

What might men with CAH present with?

A

TART - testicular adrenal rest tissue

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16
Q

What are the 3 key characteristics of PCOS?

A

Chronic (or intermittnent) anovulation

androgen XS

PCO appearnce of ovaries on US

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17
Q

What are the clinical signs of androgen XS?

A

hirsutism
acne
androgenic alopecia

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18
Q

What is a polycystic ovarian appearnce defined by?

A

presence of 12 or more follicles 2-9mm diameter

increased ovarian volume of at least 10mL

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19
Q

How would type A PCOS present?

A

Androgen XS
Ovulatory dysfunction
polycystic ovaries on US

20
Q

How would type B PCOS present?

A

ANDrogen XS

polycystic ovaries on US

21
Q

How would type C PCOS present?

A

polycystic ovaries on US

Ovulatory dysfunction

22
Q

How would type D PCOS present?

A

ovulatory dysfunction

23
Q

Name 5 pharmacological treatment options for PCOS

A 
COCP
Metformin
Anti-androgens
Ovulation induction
IN Vitro fertilisatoin
24
Q

What 5 conditions need to be excluded prior to PCOS diagnosis?

A 
CAH
adrenal cancer
ovarian cancer
Cushing's disease
Ovarian hyperthecosis
25
Q

What proportion of people have adrenal nodules?

A

5-10%

26
Q

What 2 important questions need answering with adrenal incidentalomas?

A

Is there hormone XS?

Is there malignancy?

27
Q

What 4 things need exluding in adrenal incidentaloma?

A

primary aldosteronism
Cushing’s
Adrenal androgen XS
Phaeochromocytoma

28
Q

How would you exclude primary aldosteronism?

A

screen for paired plasma renin and aldosterone measurement

29
Q

What is another term for primary aldosteronism?

A

Conn’s syndrome

30
Q

How would you exclude Cushing’s syndrome?

A

Dexamethasone suppression test

31
Q

How would you exclude adrenal androgen XS?

A

test for precursors like 17OHP

32
Q

When would you want to exclude Adrenal androgen XS?

A

if an adrenal tumour is greater than 4cm

33
Q

how would you exclude phaeochromocytoma?

A

plasma metanephrines

34
Q

What cortisol level might be expected with MACE?

A

51-138 nmol/L

35
Q

What is MACE?

A

Mild Autonomous Cortisol Excess

36
Q

What are people with MACE at increased risk of?

A

HTN
T2 DM (need more insulin than normal T2 DM)
Dyslipidaemia

generally cardio-metabolic comorbidities

37
Q

What is the most senstive diagnostic test for phaeochromocytoma?

A

plasma metanephrine

38
Q

What is a more specific test diagnostic test for phaeochromocytoma?

A

24-h metanephrines

39
Q

What 2 types of adrenal cancers do we consider?

A

ACC - Adrenocortical carcinoma

ACA - Adrenocortical Adenoma

40
Q

How do we differentiate ACA and ACC?

A

just imaging but it’s not that sensitive or specific

41
Q

How does an ACA look?

A

mass is darker than the live,r suggesting is has more fat

42
Q

What are the features of ACC?

A

large
heterogenous
Haemorrhage
Necrosis

43
Q

What other measurements are taken from adrenal cancers?

A

radiodensity

Urine steroid metabolomics

44
Q

What are the pros of urine steroid metabolomics?

A

non-invasive
radiation free
cheap

45
Q

What are the 4 genetic types of phaeochromocytoma?

A

multiple endocrine neoplasia
von hippel lindau syndrome
neurofibromatosis type 1
SDHB (succinyl dehydrogenase complex subunit B)

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