Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke's pouch. These factors dictate organ commitment, cell differentiation, and cell proliferation within the anterior pituitary. Abnormalities in these processes are associated with congenital hypopituitarism, a spectrum of disorders that includes syndromic disorders such as septo-optic dysplasia, combined pituitary hormone deficiencies, and isolated hormone deficiencies, of which the commonest is GH deficiency. The highly variable clinical phenotypes can now in part be explained due to research performed over the last 20 yr, based mainly on naturally occurring and transgenic animal models. Mutations in genes encoding both signaling molecules and transcription factors have been implicated in the etiology of hypopituitarism, with or without other syndromic features, in mice and humans. To date, mutations in known genes account for a small proportion of cases of hypopituitarism in humans. However, these mutations have led to a greater understanding of the genetic interactions that lead to normal pituitary development. This review attempts to describe the complexity of pituitary development in the rodent, with particular emphasis on those factors that, when mutated, are associated with hypopituitarism in humans.

中文翻译：

---

人和小鼠脑垂体发育的遗传调控。

正常的下丘脑垂体发育与前脑的发育密切相关，并且依赖于转录因子和信号分子的复杂遗传级联，这些转录因子和信号分子可能是发育中的 Rathke 囊的内在或外在的。这些因素决定了垂体前叶内的器官定型、细胞分化和细胞增殖。这些过程中的异常与先天性垂体功能减退症有关，这是一系列疾病，包括视隔发育不良、联合垂体激素缺乏症和孤立性激素缺乏症等综合征，其中最常见的是 GH 缺乏症。由于过去 20 年主要基于自然发生和转基因动物模型的研究，现在可以部分解释高度可变的临床表型。编码信号分子和转录因子的基因突变与小鼠和人类垂体功能减退的病因有关，无论有无其他综合征特征。迄今为止，已知基因的突变仅占人类垂体功能减退病例的一小部分。然而，这些突变使人们对导致正常垂体发育的遗传相互作用有了更深入的了解。这篇综述试图描述啮齿动物垂体发育的复杂性，特别强调那些在突变时与人类垂体功能减退有关的因素。已知基因的突变只占人类垂体功能减退病例的一小部分。然而，这些突变使人们对导致正常垂体发育的遗传相互作用有了更深入的了解。这篇综述试图描述啮齿动物垂体发育的复杂性，特别强调那些在突变时与人类垂体功能减退有关的因素。已知基因的突变只占人类垂体功能减退病例的一小部分。然而，这些突变使人们对导致正常垂体发育的遗传相互作用有了更深入的了解。这篇综述试图描述啮齿动物垂体发育的复杂性，特别强调那些在突变时与人类垂体功能减退有关的因素。