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[无脑儿型先天性肾上腺发育不全:两例伴垂体异常及文献复习]

[Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature].

作者信息

Folligan K, Roume J, Razavi F, Sepaniak S, Bouvier R, Morel Y, Trouillas J

机构信息

Laboratoire d'histologie et embryologie moléculaires, faculté de médecine Lyon-Est, rue Guillaume-Paradin, 69372 Lyon cedex 08, France.

出版信息

Morphologie. 2011 Mar;95(308):26-33. doi: 10.1016/j.morpho.2010.07.003.

Abstract

Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found.

摘要

先天性肾上腺发育不全是一种极为罕见的早发性疾病。若不进行治疗,这种病症可能会致命。某些类型是由于无脑儿型先天性肾上腺发育不全,其病因甚至尚不明确。在此,我们报告两例伴有垂体异常的无脑儿型先天性肾上腺发育不全病例。这两名男婴均因新生儿期肾上腺功能不全而死亡。肾上腺发育不全,具有无脑儿型的组织结构。垂体的免疫细胞化学研究显示促性腺激素细胞缺失。未发现DAX 1和SF - 1的突变。

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