46 XY - DSD ( 5 - alpha reductase def )

Question 1

What is the pathology in 5 alpha reductase deficiency?

Answer 1

There is a deficiency in 5 alpha reductase enzyme which converts testosterone into dihydrotestosterone in the peripheral tissue

• cannot virilise normally so lack of peripheral virlisation

Question 2

When does 5 - alpha reductase deficiency present?

Answer 2

Presents with genotypically male foetus but ambiguous genitalia at birth.