Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.

Rafael Loch BatistaBerenice Bilharinho de Mendonca

Published in: The application of clinical genetics (2020)

5ARD2 deficiency has a worldwide distribution. Allelic variants at the NADPH-ligand region cause lower virilization. Genitalia virilization influenced sex assignment but not gender change which was influenced by cultural aspects across the countries. Molecular diagnosis influenced on sex assignment, favoring male sex assignment in newborns with 5α-reductase type 2 deficiency.

Keyphrases

replacement therapy
mental health
copy number
gene expression
preterm birth