Open AccessAll males do not have 46 xy karyotype: A rare case report
Author(s) -
Ritesh Kumar Agrawala,
A. K. Choudhury,
Binoy Kumar Mohanty,
Anoj Kumar Baliarsinha
Publication year - 2013
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.119603
Subject(s) - karyotype , testis determining factor , fluorescence in situ hybridization , gynecomastia , secondary sex characteristic , locus (genetics) , y chromosome , chromosome , sex reversal , genetics , sexual differentiation , biology , medicine , gynecology , gene , endocrinology , hormone
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.