The purpose of this study was to elucidate the phenotypic conditions i
n the sella turcica/pituitary gland complex in human trisomy 18 fetuse
s. Fourteen human fetuses with gestational ages from 12 to 39 weeks we
re included in the study, Normal fetuses at corresponding ages were us
ed as controls. Whole body and special radiographic examination was un
dertaken before the midsagittal cranial base block, including the pitu
itary gland, was excised and analyzed histologically and immunohistoch
emically (keratin wide spectrum [KWS], thyroid-stimulating hormone [TS
H], and neurophysin [Nph]). In all trisomy 18 fetuses, TSH-positive ad
enopituitary tissue was present in the sella and in greater or lesser
amounts pharyngeally. The neurohypophysis was Nph-positive and located
normally in the sella turcica. The adenohypophyseal tissue reacted ei
ther KWS-faint or KWS-negative, whereas KWS-positive reaction occurs i
n normal fetuses. This circumstance might suggest an altered cytoskele
tal structure of the surface ectoderm in the pituitary placode in tris
omy 18. The sella turcica was malformed in all the fetuses. Very broad
craniopharyngeal canals were observed in some of the fetuses. Because
endocrine disorders occur in many congenital malformations, it is ess
ential in future studies to chart the sella turcica/pituitary gland re
gion systematically in different genotypes. (C) 1998 Wiley-Liss, Inc.