title: Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype.
abstract: A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/ 46,X +mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.
authors.affiliation: Department of Pediatrics, Kanazawa National Hospital, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Hashimoto
authors.forename: H
authors.initials: H
authors.lastname: Maruyama
authors.forename: R
authors.initials: R
authors.lastname: Koshida
authors.forename: N
authors.initials: N
authors.lastname: Okuda
authors.forename: K
authors.initials: K
authors.lastname: Murayama
authors.forename: T
authors.initials: T
authors.lastname: Katsumi
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: T
authors.initials: T
authors.lastname: Sato
mesh_terms: D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D006066:Gonads / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology; D014998:Y Chromosome