Endo - Congenital Adrenal Hyperplasia Flashcards
What causes congenital adrenal hyperplasia?
Congenital deficiency of 21-hydroxylase enzyme
Small number can be 11-beta-hydroxylase
Leads to underproduction of cortisol and aldosterone
Overproduction of androgens from birth
How is congenital adrenal hyperplasia inherited?
Autosomal recessive pattern
What do glucocorticoid hormones do?
Help body deal with stress
Raise blood glucose
Reduce inflammation
Suppress immune system
What do mineralocorticoid hormones do?
Act on kidneys to control salt and water balance
How does aldosterone act?
Increases ENaC and RomK channels, causing increased expression of sodium potassium cotransporter
Increases sodium
Decreases potassium
What does 21-hydroxylase do?
Converts progesterone into aldosterone and cortisol
Why do patients with congenital adrenal hyperplasia have increased testosterone?
Progesterone is converted to aldosterone and cortisol by 21 hydroxylase
Progesterone is also converted to testosterone without the need for 21 hydroxylase enzyme
As there is no conversion to cortisol or aldosterone, there is increased conversion of progesterone to testosterone
How do severe cases of congenital adrenal hyperplasia present?
Hyponatraemia
Hyperkalaemia
Hypoglycaemia
Poor feeding
Vomiting
Dehydration
Arrhythmias
Female patients
Virilised genitalia (ambiguous genitalia)
Enlarged clitoris
Why do female patients present with an enlarged clitoris?
Enlarged due to high testosterone
How does mild congenital adrenal hyperplasia present?
Hyperpigmentation
Tall for age
Deep voice
Early puberty
Absent periods in girls
Small testicles in boys
Facial hair in girls
Large penis
How is congenital adrenal hyperplasia managed?
Cortisol replacement
Aldosterone replacement
Female patients with virilised genitals may need corrective surgery
