title: All males do not have 46 xy karyotype: A rare case report.
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.
authors.affiliation: Department of Endocrinology, Sri Ram Chandra Bhanj Medical College and Hospital, Cuttack, Odisha, India.
authors.forename: Ritesh Kumar
authors.initials: RK
authors.lastname: Agrawala
authors.forename: Arun Kumar
authors.initials: AK
authors.lastname: Choudhury
authors.forename: Binoy Kumar
authors.initials: BK
authors.lastname: Mohanty
authors.forename: Anoj Kumar
authors.initials: AK
authors.lastname: Baliarsinha
keywords: 46 XX testicular disorder of sex development; SRY translocation; hypergonadotrophic hypogonadism