Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.

Abstract excerpt

CONTEXT AND OBJECTIVE: The precise diagnosis of partially virilised women with 46,XY disorders of sex development (DSD) is often obscure. In practice, this group often comes under the poorly defined, clinically based label of partial androgen insensitivity syndrome (PAIS). In a previous study, we found that 5α-reductase 2 (SRD5A2) mutations occurred in 43% of women in this subgroup. We expand this work to include...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to 17-Hydroxysteroid Dehydrogenases
• Share to Disorder of Sex Development, 46,XY