Figure 4

Histology and immunohistochemical profile with CD117 and OCT4 germ cell immaturity markers of gonads with moderate and severe dysplasia and with undifferentiated gonadal tissue. Moderate dysplasia: left gonad of an 8-month-old patient with 45,X0/46,XY sex chromosome mosaicism; severe dysplasia: right gonad of a 117-month-old patient with SOX9 promoter deletion; undifferentiated gonadal tissue: left gonad of a 3-month-old patient with 45,X0/46,XY sex chromosome mosaicism. Dysplastic gonads display an increasing disorganization of seminiferous tubules, as well as modifications of the stroma which becomes more abundant and fibrous. Germ cells located inside the branched seminiferous tubules of dysplastic areas show an abnormal expression of immaturity germ cells markers (over the age of 6 months old). In undifferentiated gonadal tissue, many germ cells randomly disposed in the stroma express CD117 and OCT4.