title: A sex reversal infant with XX karyotype and complete male external genitalia.
abstract: The unusual case of a Japanese newborn XX male is presented. Examination of chromosomes in amniotic fluid cells had shown a normal female karyotype (46,XX), but ultrasonography revealed a penis and a scrotum. The neonate had normal male external genitalia, and serum levels of luteinizing hormone, follicle stimulating hormone, and testosterone were all within the normal range. High resonance chromosome analysis revealed an excess portion on the short arm of one of the X chromosomes. We examined his genomic DNA by polymerase chain reaction (PCR) and detected two Y specific regions in his genomic DNA, the sex-determining region Y (SRY) and pseudoautosomal boundary Y. Nucleotide sequencing of the PCR products of SRY indicated no mutation. These findings suggested that the translocation or insertion of an SRY region on the X chromosome led to the development of testicles and a male phenotype.
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nomura
authors.forename: H
authors.initials: H
authors.lastname: Yagi
authors.forename: K
authors.initials: K
authors.lastname: Onigata
authors.forename: S
authors.initials: S
authors.lastname: Yutani
authors.forename: T
authors.initials: T
authors.lastname: Nagashima
authors.forename: R
authors.initials: R
authors.lastname: Ogawa
authors.forename: K
authors.initials: K
authors.lastname: Nagashima
authors.forename: A
authors.initials: A
authors.lastname: Morikawa
mesh_terms: D001483:Base Sequence; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014998:Y Chromosome