Molecular and Genetic Medicine (Kirsch)

Question 1

What is testotoxicosis?

Answer 1

• activating mutation of the LH receptor
• gonadotropin-independent familial precocious puberty
• causes shortness

Question 2

How do you treat testotoxicosis?

Answer 2

suppress androgens until time to go through puberty:

• ketoconazoles to decrease steroidgenesis
• anti-androgen and aromatase inhibitors
• GnRHa if centrally directed puberty starts too early

Question 3

What are some examples of anti-androgens?

Answer 3

bicalutamide, spironolactone

Question 4

What are some examples of aromatase inhibitors?

Answer 4

anastrozole, armidex, testolactone

Question 5

What is acid labile subunit deficiency?

Answer 5

• lack of the binding/transport protein for IGF

Question 6

How to treat labile subunit deficiency?

Answer 6

• Can administer free IGF continuously