The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

Abstract

The development of female or male sex characteristics occurs during fetal life, when the genetic, gonadal, and internal and external genital sex is determined (female or male). Any discordance among sex determination and differentiation stages results in differences/disorders of sex development (DSD), which are classified based on the sex chromosomes found on the karyotype.

Keywords

• 46,xx dsd
• biochemical diagnosis
• differences/disorders of sex development (dsd)
• genetic diagnosis