Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2013 Oct;17(Suppl 1):S271-3.
doi: 10.4103/2230-8210.119603.

All males do not have 46 xy karyotype: A rare case report

Ritesh Kumar Agrawala  1 , Arun Kumar Choudhury, Binoy Kumar Mohanty, Anoj Kumar Baliarsinha
Affiliations
Case Reports

All males do not have 46 xy karyotype: A rare case report

Ritesh Kumar Agrawala et al. Indian J Endocrinol Metab. 2013 Oct.

Abstract

The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX). A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH) showed sex determining region of Y chromosome (SRY) gene locus on X chromosome.

Keywords: 46 XX testicular disorder of sex development; SRY translocation; hypergonadotrophic hypogonadism.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest: None declared

Figures

Figure 1
Figure 1
Seminiferous tubules without spermatogenic activity
Figure 2
Figure 2
Fluorescent in situ hybridization showing pair of X chromosome
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Delahapelle A, Hortling H, Niemi M, Wennstroem J. XX sex chromosomes in a human male. First case. Acta Med Scand. 1964;175(Suppl 412):25–8. - PubMed
    1. Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, et al. Clinical, hormonal and cytogenetic evaluation of 46, XX male and review of the literature. J Pediatr Endocrinol Metab. 2005;18:739–48. - PubMed
    1. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. 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. - PubMed
    1. Dauwerse JG, Hansson KB, Brouwers AA, Peters DJ, Breuning MH. An XX male with the sex-determining region Y gene inserted in the long arm of cromossome 16. Fertil Steril. 2006;86:463.e1–5. - PubMed
    1. Kojima Y, Hayashi Y, Mizuno K, Sasaki S, Fukui Y, Koopman P, et al. Up-regulation of SOX9 in human sex-determining region on the Y chromosome (SRY)-negative XX males. Clin Endocrinol. 2008;68:791–9. - PubMed

Publication types