28 APR 2017 0913 MIX

Question 1

what is the genotype of patients with 5a-reductase deficiency? what are their internal and external characteristics?

Answer 1

• 46 XY
• male internal genitalia
• female or undermasculinized external genitalia at birth
• at puberty they experience masculinization due to testosterone

Question 2

what is the genotype of patients with androgen insensitivity? what are their internal and external characteristics?

Answer 2

• 46 XY
• male internal genitalia (testicular secretion of anti-Mullerian hormone)
• breast development: testicular testosterone is converted to estrogen