H. Hashimoto et al., PRESENCE OF TURNER STIGMATA IN A CASE OF DYSGENETIC MALE PSEUDOHERMAPHRODITISM WITH 45,X 46,X+MAR KARYOTYPE/, Archives of Disease in Childhood, 76(3), 1997, pp. 268-271
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.