PRESENCE OF TURNER STIGMATA IN A CASE OF DYSGENETIC MALE PSEUDOHERMAPHRODITISM WITH 45,X 46,X+MAR KARYOTYPE/

A case is reported of dysgenetic male pseudohermaphroditism (DMPH) hav ing 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, includ ing the sex determining region of the Y chromosome. Although this kary otype is relatively common in Turner's syndrome and occasionally obser ved in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,X Y karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The presen t patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,XI 46,X+mar karyotype abnorm ality can result in a wide range of phenotype such as DMPH, mixed gono dal dysgenesis and Turner's syndrome.