Pfaffle R W, Kim C, Blankenstein O, Kentrup H
Department of Paediatrics, University Hospital Aachen, Germany.
J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:311-7.
The pituitary transcription factor Pit-1 is expressed during the later differentiation stages of anterior pituitary development and Pit-1 mutations have been identified as the cause of a combined pituitary hormone deficiency (CPHD) for GH, prolactin and TSH. Mutations within the human Pit-1 gene can either impair the DNA binding of this transcription factor, or while leaving DNA binding capabilities unimpaired, decrease its function within the transactivation complex. Approximately half of all patients with this phenotype do not show any defect within the Pit-1 gene. Prop-1, a recently discovered transcription factor of anterior pituitary development, seemed a likely candidate for such mutations. Prop-1 mutations, however, have been found so far to induce a combined pituitary hormone deficiency for GH, prolactin, TSH and gonadotropins. We describe here a group of patients with isolated and combined pituitary hormone deficiencies who were screened for Pit-1 and Prop-1 mutations to characterize the phenotypic spectrum of defects within these two genes.
垂体转录因子Pit-1在前脑垂体发育的后期分化阶段表达，Pit-1突变已被确定为生长激素、催乳素和促甲状腺激素联合垂体激素缺乏症（CPHD）的病因。人类Pit-1基因内的突变要么损害该转录因子的DNA结合能力，要么在不损害DNA结合能力的情况下，降低其在反式激活复合物中的功能。所有具有这种表型的患者中约有一半在Pit-1基因内未显示任何缺陷。Prop-1是最近发现的一种前脑垂体发育转录因子，似乎是此类突变的一个可能候选因素。然而，迄今为止发现Prop-1突变会导致生长激素、催乳素、促甲状腺激素和促性腺激素联合垂体激素缺乏。我们在此描述一组患有孤立性和联合性垂体激素缺乏症的患者，他们接受了Pit-1和Prop-1突变筛查，以确定这两个基因内缺陷的表型谱。
