Kjaer I, Keeling J W, Reintoft I, Hjalgrim H, Nolting D, Fischer Hansen B
Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.
Am J Med Genet. 1998 Feb 26;76(1):87-92.
The purpose of this study was to elucidate the phenotypic conditions in the sella turcica/pituitary gland complex in human trisomy 18 fetuses. Fourteen human fetuses with gestational ages from 12 to 39 weeks were included in the study. Normal fetuses at corresponding ages were used as controls. Whole body and special radiographic examination was undertaken before the midsagittal cranial base block, including the pituitary gland, was excised and analyzed histologically and immunohistochemically (keratin wide spectrum [KWS], thyroid-stimulating hormone [TSH], and neurophysin [Nph]). In all trisomy 18 fetuses, TSH-positive adenopituitary 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 either KWS-faint or KWS-negative, whereas KWS-positive reaction occurs in normal fetuses. This circumstance might suggest an altered cytoskeletal structure of the surface ectoderm in the pituitary placode in trisomy 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 essential in future studies to chart the sella turcica/pituitary gland region systematically in different genotypes.
本研究的目的是阐明人类18三体胎儿蝶鞍/垂体复合体的表型状况。该研究纳入了14例孕龄在12至39周的人类胎儿。将相应年龄的正常胎儿作为对照。在切除包括垂体的中矢状颅底块并进行组织学和免疫组织化学分析（广谱角蛋白[KWS]、促甲状腺激素[TSH]和神经垂体素[Nph]）之前，进行了全身及特殊影像学检查。在所有18三体胎儿中，蝶鞍内均存在TSH阳性的腺垂体组织，咽部也或多或少存在该组织。神经垂体Nph阳性，正常位于蝶鞍内。腺垂体组织对KWS反应微弱或呈KWS阴性，而正常胎儿中则出现KWS阳性反应。这种情况可能表明18三体胎儿垂体原基表面外胚层的细胞骨架结构发生了改变。所有胎儿的蝶鞍均发育异常。在一些胎儿中观察到非常宽阔的颅咽管。由于许多先天性畸形中都会出现内分泌紊乱，因此在未来的研究中，对不同基因型的蝶鞍/垂体区域进行系统绘图至关重要。
