Korean J Leg Med.  2013 Feb;37(1):38-41. 10.7580/kjlm.2013.37.1.38.

A Case of Molecular Analysis of XX Male Syndrome

• Lee HY
• Lyoo SH
• Hwang CH
• Lee SD

• KMID: 2250279
• DOI: http://doi.org/10.7580/kjlm.2013.37.1.38

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.

Keyword

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

MeSH Terms

Amelogenin
Female
Genes, sry
Humans
Karyotype
Klinefelter Syndrome
Male
Y Chromosome
Amelogenin

Figure

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  Fig. 1. This electropherogram is a DNA typing result of XX male syndrome patient using Y chromosome test system.

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  Fig. 2. This electropherogram is a sex typing result using X chromosome test system.

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  Fig. 3. This electropherogram is a sex typing result using autosomal test system.

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