Congenital Adrenal Hyperplasia

Question 1

What protein is responsible for cholesterol translocation from cytoplasm to inner mitochondrial membrane?

Answer 1

Steroidogenic Acute Regulatory Protein (StAR)

Question 2

In the three steroid pathways (mineralocorticoid, glucocorticoid and androgen) what is the most common enzymatic defect? What happens?

Answer 2

21-hydroxylase deficiency (present in glucocorticoid and mineralocorticoid pathway)

21-hydroxylase is needed for production of cortisol –> cortisol deficiency, aldosterone deficiency and buildup of precursors

EVERYTHING GETS SHUNTED TO ANDROGEN PATHWAY

Question 3

What is the second most common enzymatic defect of the adrenal gland steroidgenesis pathways?

Answer 3

11-hydroxylase deficiency

Question 4

What are the general signs and symptoms of CAH caused by 21-hydroxylase deficiency?

Answer 4

Glucocorticoid deficiency

Mineralocorticoid deficiency

Adrenal androgen excess

Ambiguous genitalia in females; postnatal virilization in males

Question 5

What are the three subtypes of CAH caused by 21-hydroxylase deficiency from most severe to least severe?

Answer 5

Salt wasting (75%) - most severe

Simple virilizing (25%) - next severe

Non-classical (rare) - least severe

Question 6

What are signs and symptoms of 11-beta hydroxylase deficiency? Treatment?

Answer 6

Hypertension due to increased precursors with mineralocorticoid activity

Genital abnormalities similar to 21-hydroxylase deficiency since increased shunting to androgen pathway

Glucocorticoids +/- anti hypertensive

Question 7

What are signs and symptoms of 3-beta hydroxysteroid dehydrogenase deficiency? Treatment?

Answer 7

Neonates with symptoms of glucocorticoid and mineralocorticoid deficiency; mild virilization

Treat with everything since there is a defect in all of the pathways

Question 8

What happens if there is a deficiency in StAR?

Answer 8

Salt wasting adrenal crisis, female phenotype regardless of gonadal sex (no androgens)

High mortality