title: Sex-determining region Y (SRY) in a patient with 46,XX true hermaphroditism.
abstract: Using a polymerase chain reaction method, a search for Y-specific DNA sequences was made in samples derived from tissues of a 46,XX true hermaphrodite. We found a sequence of SRY in the ovotestis, skin and leukocytes. Other DNA sequences, which covered the pseudoautosomal boundary region, amelogenin gene and DYZ1 locus of Y-chromosome were not detected. The SRY gene detected in the patient by the polymerase chain reaction was not detected by Southern blot analysis, using the SRY fragment as a probe. These findings suggest that in the patient there is a mosaicism of cells with and without part of the Y chromosome, including the SRY sequence. As the SRY sequence was responsible for the development of the gonadal primordium to the ovotestis, SRY seems essential for gonadal differentiation in testis development.
authors.affiliation: Department of Pediatrics, Kumamoto University Medical School, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Tanoue
authors.forename: T
authors.initials: T
authors.lastname: Nakamura
authors.forename: F
authors.initials: F
authors.lastname: Endo
authors.forename: S
authors.initials: S
authors.lastname: Nishiyama
authors.forename: H
authors.initials: H
authors.lastname: Sakiyama
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism; D010063:Ovum / Q000473:pathology; D016133:Polymerase Chain Reaction; D012732:Sex Determination Analysis; D013737:Testis / Q000473:pathology; D014998:Y Chromosome
chemical_list: D004247:DNA