Pre-Pubertal and Congenital Gynaecological Disorders - 5-a-Reductase Deficiency

Question 1

What is 5-a-Reductase Deficiency?

Answer 1

An autosomal recessive condition where there is an inability of males to convert Testosterone into the more potent DHT.

Question 2

Clinical Features of 5-a-Reductase Deficiency (3).

Answer 2

1. Neonate : Ambiguous Genitalia.
2. Hypospadias.
3. Virilisation at Puberty.