congenital adrenal hyperplasia Flashcards
adrenal cortex hormone synthesis
draw out the pathway
most common cause of congenital adrenal hyperplasia
deficiency in 21-hydroxylase enzyme resulting in insufficient production of aldosterone and cortisol
inadequate production of aldosterone and cortisol results in
a build up of the precursors which then get shunted into the testosterone pathway resulting in a build up of androgens
excessive androgen production causes
virilisation in females
congenital adrenal hyperplasia is inherited
autosomal recessively
how many cases are caused by deficiency in 21-hydroxylase
90%
although most cases are caused by deficiency in 21-hydroxylase
congenital adrenal hyperplasia can be caused by deficiencies in other enzymes in the pathway such as deficiency in 11-beta-hydroxylase
congenital adrenal hyperplasia caused by deficiency in 21-hydroxylase symptoms
presents with the same symptoms of addisons disease as they both cause a deficiency in aldosterone and cortisol
in males the excess testosterone
has no affect but in females causes virilisation
virilisation results in
- clitoral thickening
- excessive facial hair
- acne
- deepening and heartening of voice
- loss of libido
- irregular menstrual cycle
- early puberty
- male pattern baldness
- hirsutism
reduced levels of cortisol result in
no negative feedback so ACTH secretion is increased which causes adrenal cortical hyperplasia
diagnosis of congenital adrenal hyperplasia
- increased levels of 17- hydroxyprogesterone
- low levels of cortisol and aldosterone
- high levels of androgens
- hyperkalaemia and hyponatraemia
treatment of congenital adrenal hyperplasia
hydrocortisone and fludrocortisone
in baby girls congenital adrenal hyperplasia presents with
ambiguous genitalia caused by virilization
