Parks John S
Emory University School of Medicine, Atlanta, GA 30322, USA.
Clin Perinatol. 2018 Mar;45(1):75-91. doi: 10.1016/j.clp.2017.11.001.
Mutations of growth hormone genes and pituitary transcription factors account for a small proportion of cases of severe congenital hypopituitarism. Most cases show characteristic MRI findings of pituitary stalk interruption syndrome. Clinical suspicion should prompt assessment of cortisol, free T4, thyroid-stimulating hormone, and growth hormone levels together with MRI of the hypothalamic and pituitary regions.
生长激素基因和垂体转录因子的突变在严重先天性垂体功能减退病例中占比很小。大多数病例表现出垂体柄中断综合征的典型磁共振成像（MRI）表现。临床怀疑应促使对皮质醇、游离甲状腺素、促甲状腺激素和生长激素水平进行评估，并同时对下丘脑和垂体区域进行MRI检查。
