Congenital Adrenal Hyperplasia Flashcards
What enzyme is deficient in congenital adrenal hyperplasia?
21-Hydroxylase enzyme
What inheritance pattern does congenital adrenal hyperplasia follow?
Autosomal recessive
What triggers the release of cortisol from the adrenal glands?
ACTH which is released from the anterior pituitary and acts on the adrenal glands to release cortisol.
An example of a glucocorticoid hormone and what is it’s function?
Cortisol - hormone levels fluctuate throughout the day with increased levels in the morning and in times of stress. It helps the body deal with stress, reduces inflammation and suppresses the immune system.
An example of a Mineralocorticoid and what’s it’s function?
Aldosterone - hormone released by the adrenal gland in response to renin produced by the kidneys. Acts on the kidneys to increase sodium reabsorption and increase potassium urine excretion.
So aldosterone increases sodium in blood and decreases potassium in the blood.
What is hormonal presentation of CAH?
Low aldosterone
Low cortisol
Abnormally high testosterone
Severe CAH cases will present shortly after birth, what is the clinical presentation?
Poor feeding
Vomiting
Dehydration
Arrhythmias
Patients who have milder cases of CAH tend to present during childhood or after puberty, what is the clinical presentation?
Female: tall for age, facial hair, absent periods, deep voice and early puberty.
Male: tall for age, deep voice, large penis, small testicles and early puberty.
What is a textbook and exam clue that patient has CAH?
Skin hyperpigmentation (since there is low cortisol being produced, pituitary gland tries to compensate by increasing ACTH production causing hyperpigmentation).
What medication is administered for low cortisol?
Hydrocortisone
What medication is administered for low aldosterone?
Fludrocortisone
