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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.

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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

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