Pfäffle R W, Martinez R, Kim C, Frisch H, Lebl J, Otten B, Heimann G
Dept. of Pediatrics RWTH Aachen, Germany.
Exp Clin Endocrinol Diabetes. 1997;105 Suppl 4:1-5.
Hypothyroidism is a recognised complication of GH therapy in GH deficient children. The mechanisms involved include direct effects on thyroid function but also result from the close interrelationship of pituitary cell-lines that differentiate during embryonic development of the anterior pituitary gland. Among numerous pituitary transcriptionfactors that orchestrate pituitary organogenesis Pit-1 was the first to be recognised and is the most extensively studied. Mutations in the Pit-1 gene account for a form of combined pituitary hormone deficiency for GH, Prolactin (Prl) and TSH (CPHD). Despite the variability of the clinical presentation of this syndrome at the time of initial diagnosis, all forms finally result in severe retardation of growth and development due to GH-deficiency and hypothyroidism. More than half of the families with a combined pituitary hormone deficiency have not disclosed any Pit-1 abnormalities. Evidence is accumulating that Prop-1, a transcriptionfactor expressed temporarily in the fetal anterior pituitary, could be a candidate for patients with a Pit-1 phenotype without any Pit-1 gene abnormalities.
甲状腺功能减退是生长激素缺乏儿童接受生长激素治疗后公认的并发症。其涉及的机制包括对甲状腺功能的直接影响，但也源于垂体前叶在胚胎发育过程中分化的垂体细胞系之间的密切相互关系。在众多协调垂体器官发生的垂体转录因子中，Pit-1是第一个被识别的，也是研究最广泛的。Pit-1基因突变导致一种生长激素、催乳素（Prl）和促甲状腺激素（TSH）联合垂体激素缺乏症（CPHD）。尽管该综合征在初诊时临床表现存在差异，但所有类型最终都会因生长激素缺乏和甲状腺功能减退导致严重的生长发育迟缓。超过一半的联合垂体激素缺乏症家庭未发现任何Pit-1异常。越来越多的证据表明，Prop-1是一种在胎儿垂体前叶中短暂表达的转录因子，可能是那些没有任何Pit-1基因异常但具有Pit-1表型患者的致病候选因素。
