46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

What is 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency?

A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.

Other condition names

  • 46,XY DSD due to 5-alpha-reductase 2 deficiency
  • Pseudovaginal perineoscrotal hypospadias
  • Steroid 5-alpha-reductase deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Adolescent
  • Childhood
  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.