Erroneous gender identification by the amelogenin sex test

Human gender identification, based on the amelogenin gene, has important applications in forensic casework, prenatal diagnosis, DNA databasing, and blood sample storage. However, we report on the first known case, in the Israeli population, of an amelogenin sex test failure on a phenotypically normal male. He was typed as a female by both the AmpFlSTR SGM plus and GenePrint kits. Subsequent, karyotyping of the soldier's blood sample showed no abnormalities. These results suggest that the determination of sex, based on the amelogenin test, should be interpreted cautiously.