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Paediatrics > Paeds Endocrine > Flashcards

Paeds Endocrine Flashcards

1
Q

What is the pattern of inheritance of congenital adrenal hyperplasia?

A

autosomal recessive

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2
Q

What actually is it that’s deficient in congential adrenal hyperplasia ?

A

AN ENZYME which makes cortisol, aldosterone or both

most commonly 21-hydroxylase

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3
Q

What happens to levels of cortisol and aldosterone in congenital adrenal hyperplasia?

A

not enough cortisol and/or aldosterone!!

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4
Q

What are consequences of low aldosterone in CAH? for

a) Na
b) K
c) BP
d) H+

A 
low aldosterone = 
low Na
high K
low BP
high H+ (metabolic acidosis)
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5
Q

What does aldosterone do hun?

A

Na reabsorption at kidaz, increases blood pressure

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6
Q

What does aldosterone do to blood pressure?

A

increases it

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7
Q

What is consequence of low cortisol in CAH?

A

hypoglycaemia

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8
Q

Congential adrenal hyperplasia in which there is low aldosterone is called…

A

‘salt-wasting CAH’

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9
Q

What is the function of ACTH?

A

increase cortisol

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10
Q

Where is ACTH released from?

A

anterior pituitary

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11
Q

What does ACTH stand for?

A

adrenocorticotropic hormone

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12
Q

In congenital adrenal hyperplasia, there is low cortisol due to an enzyme deficiency. ACTH is then overproduced to try and increase cortisol levels, bless. This leads to hyperplasia of adrenal gland, which leads to an increase in which hormones?

A

excess androgens!

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13
Q

What are the consequences of excess androgens for females with congenital adrenal hyperplasia?

A

ambiguous genitalia (clitoromegaly), precocious puberty, infertility

(men - early virilization, precocious puberty)

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14
Q

When neonates present with congenital adrenal hyperplasia, it’s because they are having…

A

a salt-wasting crisis!

SHOCKED.

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15
Q

What would U+Es show in congenital adrenal hyperplasia?

A

low Na

high K

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16
Q

What would blood glucose be in congenital adrenal hyperplasia?

A

hypoglycaemic

17
Q

Which test is diagnostic for congenital adrenal hyperplasia?

A

serum 17-OHP (high)

17-hydroxy-progesterone -a cortisol precursor

18
Q

What is 17-OHP?

A

a cortisol precursor
use it to test for congenital adrenal hyperplasia
its high when its not getting converted to cortisol by the enzyme

19
Q

A male neonate presents shocked and collapsed. FHx of congenital adrenal hyperplasia. You test serum 17-OHP. Expecting it to be…

A

HIGH

cortisol precursor, not getting converted to cortisol by the enzyme

20
Q

A baby is born with ambiguous genitalia. What (among other things) do you test?

A

17-OHP
for congenital adrenal hyperplasia

and you’d do a karyotype to see their chromosomal sex obvs

21
Q

What is the commonest cause of ambiguous genitalia?

A

congenital adrenal hyperplasia

**it’s only the girls with CAH that have ambiguous genitalia, bc of virilization

22
Q

‘intersex’ conditions are now called

A

disorder of sexual development

23
Q

What is the management of congenital adrenal hyperplasia?

A

hydrocortisone
fludrocortisone
surgery for female genitalia

(sick day rules)

24
Q

What do you need to monitor when a child is on treatment for congenital adrenal hyperplasia?

A

growth + DEXAs,

cos its steroids

25
Q

What kind of corticosteroid is fludrocortisone?

A

mineralocorticoid

just think like fluuuuride is a mineral and fluuuuurdrocortisone is a mineralocorticoid

26
Q

Right, when could you give antenatal treatment for congenital adrenal hyperplasia?

A

well, when mum has had a previous child with CAH.
would give her dexamethasone (glucocorticoid)
(to suppress foetal over-secretion of androgens)

27
Q

Describe me the layers of adrenal cortex.

A

zone reticularis - SEX
zona fasciculata - SUGAR
zona glomerulosa - SALT

SEX
SUGAR
SALT

28
Q

Zona reticularis, fasciculata, and glomerulosa make you think of…

A

SEX (androgens)
SUGAR (cortisol) - gluco
SALT (aldosterone) - mineralo

29
Q

Virilization, hypotension. What FLASHES across your mind?

A

CAH

30
Q

What does the adrenl medulla make?

A

catecholamines (adrenaline)

phaeocytochroma

31
Q

What are the androgens

A

DHEA, testosterone

Paediatrics (14 decks)

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