A Case of 46,XX African American male

Abstract

We report on a 16-year-old African American male with 46, XX karyotype. He was referred for evaluation because of gynecomastia. A pathology report from a surgically removed undescended testis at 2 years of age showed a left ovotestis. When we saw him, he had a tall thin habitus, female distribution of pubic hair, gynecomastia, and penile abnormality. Molecular methods using primers specific to YP11 locus failed to detect the presence of the SRY gene. Furthermore, using primers specific for the Y-linked and X-linked amelogenin loci showed the presence of only the X-linked amelogenin locus but not he Y-linked amelogenin locus in his genome Fluorescence in situ hybridization (FISH) indicated the presence of Y material on one of his X-chromosomes. The presence of SRY sequences and other Y chromosome genes in this patient's cell lines of specific tissues might probably be the reason for his phenotype. The findings in this patient suggest the need to use both DNA analysis and FISH methods in studying patients with sex-chromosome abnormalities presenting with unusual phenotypes.