Other endo disorders

Question 1

What diet do PKU kids follow?

Answer 1

Diets low in Phenylalanine
formula free of phenylalanine
no meat, limited fruits, vegetables and limited grains
must follow diet for life

Question 2

Galactosemia

Answer 2

error of CHO metabolism
cannot break down milk
* DO NOT breast feed unless mom is 100% dairy free

Question 3

diet for galactosemia

Answer 3

Lactose free diet
soy formula
calcium supplements
use meds with caution as some can contain galactose
PCN and vitamin sensitivities

Question 4

Growth Hormone teaching ( hypopituitrism)

Answer 4

short stature- below 3rd percentile
weight normal to heavy
daily sub-q injections of growth hormones, continue until adult height is reached
give at night to mimic body’s normal growth
teach realistic expectations ( will be normal height not a NBA ball player tall)

Question 5

what is true normal puberty

Answer 5

before age 9 in boys and age 8 in girls
most common type
more frequently in girls
normal puberty in girls, beast development followed by periods in a couple years
may be treated with Lupron to slow growth to normal

Question 6

how do you detect CAH (congenital Adrenal hyperplasia)

Answer 6

ambiguous genitalia
low cortisol and aldosterone
WATCH for dehydration can become hyponatremic fast!
may taste salty

Question 7

treatment of CAH

Answer 7

confirm diagnosis and assign a sex to infant according to genotype
cortisone to suppress high ACTH
reconstructive surgery as required

Question 8

teaching related to CAH

Answer 8

teach parents how to identify dehydration and salt-loosing crisis
genetic counseling
how to treat adrenal crisis and identify it