Korean Journal of Legal Medicine  2013;37(1):38-41

doi:10.7580/kjlm.2013.37.1.38

A Case of Molecular Analysis of XX Male Syndrome.

Hye Young LEE ; Sung Hee LYOO ; Choon Hong HWANG ; Soong Deok LEE

Keywords

XX male syndrome; Y chromosome; SRY gene; DNA testing

Country

Republic of Korea

Language

Korean

Abstract

Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX male syndrome is characterized by a phenotypic male with a 46, XX female karyotype. In this point, this case report would help understand the importance of genotype-phenotype discrepancy.