Journal List > Korean J Leg Med > v.37(1) > 1004722

Lee, Lyoo, Hwang, and Lee: A Case of Molecular Analysis of XX Male Syndrome

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.

REFERENCES

1. Ferlin A, Moro E, Rossi A, et al. The human Y chromosome’ s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet. 2003; 40:18–24.
2. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001; 22:226–39.
crossref
3. Rickman L, Fiegler H, Shaw-Smith C, et al. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet. 2006; 43:353–61.
crossref
4. de la Chapelle A, Hortling H, Niemi M, et al. XX sex chromosomes in a human male. first case. Acta Med Scand. 1964; 175:25–8.
5. de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981; 58:105–16.
crossref
6. Vorona E, Zitzmann M, Gromoll J, et al. Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients. J Clin Endocrinol Metab. 2007; 92:3458–65.
7. Queralt R, Madrigal I, Vallecillos MA, et al. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion. Am J Med Genet A. 2008; 146A:1335–40.
8. Ferguson-Smith MA. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter’ s syndrome. Lancet. 1966; 2:475–6.
9. Saenger P, Levine LS, Wachtel SS, et al. Presence of H-Y antigen and testis in 46, XX true hermaphroditism, evidence for Y-chromosomal function. J Clin Endocrinol Metab. 1976; 43:1234–9.
crossref
10. de la Chapelle A, Hastbacka J, Korhonen Y, et al. The etiology of XX sex reversal. Reprod Nutr Dev. 1990; (suppl 1):39–49.
crossref

Fig. 1.
This electropherogram is a DNA typing result of XX male syndrome patient using Y chromosome test system.
kjlm-37-38f1.tif
Fig. 2.
This electropherogram is a sex typing result using X chromosome test system.
kjlm-37-38f2.tif
Fig. 3.
This electropherogram is a sex typing result using autosomal test system.
kjlm-37-38f3.tif
TOOLS
Similar articles