5-alpha-reductase deficiency is a cause of pseudohermaphroditism in males in which the child has male internal sex organs but have ambiguous external genitalia.

Children with this 5-alpha-reductase deficiency have:

  • Normal male chromosomes
  • Genitals that are ambiguous

Children with this condition lack an enzyme (5-alpha reductase). This enzyme is needed to help the male sex organs complete their development. This condition is inherited. It is caused by an autosomal recessive gene. Autosomal recessive means that each parent carries one copy of the gene and transmits the gene at the same time to the child. Carrier parents have a 1 in 4 chance of having a child with this condition with each pregnancy. It affects only male babies.