In a significant proportion of cases, anencephaly is associated with thymic
enlargement, suggesting a possibility that anencephalic fetuses have a fun
ctional disturbance in thymocyte differentiation and development. In this r
eport, we demonstrated that CD99 expression was consistently reduced in cor
tical thymocytes of all anencephalic fetuses. In addition, the CD99-depende
nt aggregation of immature cortical thymocytes was almost completely impair
ed and apoptosis of thymocytes was markedly reduced in several cases. These
results are in agreement with previous findings that CD99 regulates the ag
gregation and apoptosis of various types of cells. These data strongly sugg
est that functional disturbance of thymocytes and thymic hyperplasia are re
lated to the reduced expression of CD99 molecule in anencephalic fetuses.