Turner syndrome with adenoblastoma in children: A rare case report

Turner syndrome (TS) is a congenital ovarian hypoplasia with an incidence of approximately 1/4000 in live-born females.1 The karyotype can be mosaic and non-mosaic, and the non-chimeric type is the most common accounting for about half. Mosaic type is more common in 45,X/46XX/47XXX, and 45,X/46,XY is extremely rare, in children cases about 1.7%–3%.2,3 Thus, we report an extremely rare case which the conventional chromosome is 46, XY and fluorescence in situ hybridization detection indicates that some cells are X monosomy. We insist that it is easy to misdiagnose by simply relying on conventional karyotypes.