Adrenal and Gonads - CS5: Congenital Adrenal Hyperplasia

Question 1

What are the symptoms for Congenital Adrenal Hyperplasia (CAH)?

Answer 1

Ambiguous genitalia in females due to increased androgen production

Early onset of puberty (precocious puberty)

Rapid growth in childhood, but short stature as an adult due to premature epiphyseal closure

Salt-wasting crisis (in severe forms): Dehydration, vomiting, low blood pressure, hypoglycaemia

Hyperpigmentation (due to increased ACTH)

Electrolyte imbalances (hyponatremia, hyperkalemia)

Irregular periods or infertility in females

Question 2

What are the treatments for Congenital Adrenal Hyperplasia (CAH)?

Answer 2

Glucocorticoid replacement (e.g., hydrocortisone or prednisone): To suppress excess androgen production and restore cortisol levels

Mineralocorticoid replacement (e.g., fludrocortisone): To manage salt balance and prevent salt-wasting crisis

Surgical intervention: For correction of ambiguous genitalia in females (if necessary)

Electrolyte management: For correcting any imbalances (e.g., sodium supplementation in salt-wasting forms)

Question 3

What blood tests are commonly used in diagnosing Congenital Adrenal Hyperplasia (CAH)?

Answer 3

Elevated 17-hydroxyprogesterone (17-OHP) levels are indicative of 21-hydroxylase deficiency.

ACTH stimulation test (e.g., Synacthen test) to assess adrenal function.

Cortisol and aldosterone levels to check for adrenal insufficiency.

Question 4

What is the treatment for Congenital Adrenal Hyperplasia (CAH)?

Answer 4

Glucocorticoids (e.g., hydrocortisone) to replace cortisol and suppress excessive ACTH production.

Mineralocorticoids (e.g., fludrocortisone) to replace aldosterone if necessary.

Surgical interventions may be required in cases of ambiguous genitalia in females, though this is controversial.