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2738607 
Journal Article 
All males do not have 46 xy karyotype: A rare case report 
Agrawala, RK; Choudhury, AK; Mohanty, BK; Baliarsinha, AK 
2013 
17 
Suppl 1 
S271-S273 
English 
24251184 
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.