Question

Congenital Adrenal Hyperplasia

- Most common Cause? 21 Hydroxylase deficiency. (autosomal recessive)
- Definitive test? 17-OH progesterone before and after ACTH bolus
- Tx? Hydrocortisone and fludrocortisone (↑ doses in times of stress)

Answer 1

Congenital Adrenal Hyperplasia is primarily caused by 21-Hydroxylase deficiency, treated with Hydrocortisone and Fludrocortisone. Cushing's syndrome results from hypersecretion of cortisol, often due to a pituitary tumor, while Addison's disease is a hyposecretion of corticosteroids, typically treated with hormone replacement.

Step-by-step explanation:

Congenital Adrenal Hyperplasia and Cushing's Syndrome

The question addresses a condition known as Congenital Adrenal Hyperplasia (CAH), which is most commonly caused by a deficiency in the enzyme 21-Hydroxylase, an autosomal recessive trait. Diagnosis is often made by measuring 17-OH progesterone levels before and after an ACTH bolus. The standard treatment includes administering Hydrocortisone and Fludrocortisone, with increased doses during periods of stress.

In contrast, Cushing's syndrome is a disorder characterized by the hypersecretion of cortisol, typically due to a pituitary tumor leading to excessive ACTH production. Symptoms of Cushing's may include obesity, hypertension, excess body hair, osteoporosis, and depression. Treatment depends on the underlying cause but may involve surgery or medication to suppress adrenal gland activity.

Addison's disease is the opposite condition involving the hyposecretion of corticosteroids from the adrenal cortex, and it is often treated with hormone replacement therapy.

Both Addison's disease and Cushing's syndrome reflect the importance of adrenal gland function and the severe impact of its disorders on the body.