Paeds Endocrine Flashcards
(31 cards)
What is the pattern of inheritance of congenital adrenal hyperplasia?
autosomal recessive
What actually is it that’s deficient in congential adrenal hyperplasia ?
AN ENZYME which makes cortisol, aldosterone or both
most commonly 21-hydroxylase
What happens to levels of cortisol and aldosterone in congenital adrenal hyperplasia?
not enough cortisol and/or aldosterone!!
What are consequences of low aldosterone in CAH? for
a) Na
b) K
c) BP
d) H+
low aldosterone = low Na high K low BP high H+ (metabolic acidosis)
What does aldosterone do hun?
Na reabsorption at kidaz, increases blood pressure
What does aldosterone do to blood pressure?
increases it
What is consequence of low cortisol in CAH?
hypoglycaemia
Congential adrenal hyperplasia in which there is low aldosterone is called…
‘salt-wasting CAH’
What is the function of ACTH?
increase cortisol
Where is ACTH released from?
anterior pituitary
What does ACTH stand for?
adrenocorticotropic hormone
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?
excess androgens!
What are the consequences of excess androgens for females with congenital adrenal hyperplasia?
ambiguous genitalia (clitoromegaly), precocious puberty, infertility
(men - early virilization, precocious puberty)
When neonates present with congenital adrenal hyperplasia, it’s because they are having…
a salt-wasting crisis!
SHOCKED.
What would U+Es show in congenital adrenal hyperplasia?
low Na
high K
What would blood glucose be in congenital adrenal hyperplasia?
hypoglycaemic
Which test is diagnostic for congenital adrenal hyperplasia?
serum 17-OHP (high)
17-hydroxy-progesterone -a cortisol precursor
What is 17-OHP?
a cortisol precursor
use it to test for congenital adrenal hyperplasia
its high when its not getting converted to cortisol by the enzyme
A male neonate presents shocked and collapsed. FHx of congenital adrenal hyperplasia. You test serum 17-OHP. Expecting it to be…
HIGH
cortisol precursor, not getting converted to cortisol by the enzyme
A baby is born with ambiguous genitalia. What (among other things) do you test?
17-OHP
for congenital adrenal hyperplasia
and you’d do a karyotype to see their chromosomal sex obvs
What is the commonest cause of ambiguous genitalia?
congenital adrenal hyperplasia
**it’s only the girls with CAH that have ambiguous genitalia, bc of virilization
‘intersex’ conditions are now called
disorder of sexual development
What is the management of congenital adrenal hyperplasia?
hydrocortisone
fludrocortisone
surgery for female genitalia
(sick day rules)
What do you need to monitor when a child is on treatment for congenital adrenal hyperplasia?
growth + DEXAs,
cos its steroids
