Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit‐1 gene
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit‐1 gene
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Pit-1 基因突变导致垂体激素缺乏和垂体发育不全
DOI：
10.1046/j.1365-2265.2000.00942.x
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发表时间：
2000
影响因子：
3.2
通讯作者：
R. Pfäffle
中科院分区：
文献类型：
--
作者：
H. Frisch;Christian Kim;G. Häusler;R. Pfäffle
垂体特异性转录因子Pit-1的几个突变已被确定。我们描述了一个女孩与突变的Pit‐1基因导致完全缺乏生长激素，促甲状腺激素和催乳素和显着发育不全的垂体前叶。患者在172位（CGA至TGA）发生纯合无义突变，将精氨酸转化为终止密码子，导致蛋白质翻译提前终止。在婴儿期，女孩有非常明显的甲状腺功能减退症症状，甲状腺功能不全的诊断比GH缺乏症的诊断早1.5年。甲状腺素和GH治疗导致了极好的追赶性生长。
Several mutations of the pituitary‐specific transcription factor Pit‐1 have been identified. We describe a girl with a mutation of the Pit‐1 gene leading to a complete lack of GH, TSH and prolactin and a marked hypoplasia of the anterior pituitary gland. The patient had a homozygous nonsense‐mutation at position 172 (CGA to TGA), converting arginine into a stop codon, leading to an early termination of protein translation. During the infancy period the girl had very conspicuous symptoms of hypothyroidism and the diagnosis of thyroid insufficiency preceded the diagnosis of GH‐deficiency by 1.5 years. Treatment with thyroxine and GH resulted in excellent catch‐up growth.