A Case of Molecular Analysis of XX Male Syndrome

Hye Young Lee; Sung Hee Lyoo; Choon Hong Hwang; Soong Deok Lee

doi:10.7580/kjlm.2013.37.1.38

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

Go to TopGo to Top Go to BottomGo to Bottom

TOOLS

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

증례 보고

Korean J Leg Med 2013;37(1):38-41.

Published online: 17 January 2013

DOI: https://doi.org/10.7580/kjlm.2013.37.1.38

A Case of Molecular Analysis of XX Male Syndrome

Hye Young Lee¹, Sung Hee Lyoo², Choon Hong Hwang³, Soong Deok Lee^1,²

¹Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea

²Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Korea

³Dowgene, Seoul, Korea

이 논문은 2012년도 정부(교과부)의 재원 으로 한국연구재단 바이오∙의료기술개 발사업의 지원을 받아 수행된 연구임(No. 2012-0009833). 책임저자 : 이숭덕 (110-799) 서울시 종로구 연건동 대학로 103번지, 서울대학교 의과대학 법의학교실 전화 : +82-2-740-8359 FAX : +82-2-764-8340 E-mail : sdlee@snu.ac.kr

Received 30 January 2013 Revised 13 February 2013 Accepted 21 February 2013

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Key words, XX male syndrome, Y chromosome, SRY gene, DNA testing

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.

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.

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.

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.

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.

Fig. 1.

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

Fig. 2.

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

Fig. 3.

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

TOOLS

Similar articles