新生儿及小婴儿期垂体柄阻断综合征的临床特点

Clinical features of pituitary stalk interruption syndrome in neonates and infants

垂体柄阻断综合征（PSIS）是指垂体柄缺如或明显变细，垂体前叶发育不良，同时并垂体后叶异位所致的临床综合征。PSIS的发生与围生期异常及先天性基因突变有关。PSIS的临床表现多样，儿童和青少年期主要表现为生长发育迟缓和／或性发育低下，但新生儿、小婴儿期的临床表现缺乏特异性。PSIS在新生儿、小婴儿期主要表现为反复发作的低血糖、低血钠、小阴茎、隐睾、畸形、黄疸消退延迟、便秘、纳差等。应重视垂体磁共振成像（MRI）在PSIS诊断中的价值，垂体MRI特征与PSIS临床表型密切相关。PSIS一经诊断，应早期进行激素替代治疗，且需长期随访。

Pituitary stalk interruption syndrome （PSIS） is characterized by a thin or absent pituitary stalk,hypoplasia of the adenohypophysis, and ectopic neurohypophysis. The occurrence of PSIS is associated with perinatal abnormalities and congenital gene mutations. PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset. The phenotype in children and adolescents includes short stature and abnormal sexual development. However, the manifestations of PSIS in neonates and infants are not specific. The phenotype in the neonatal period includes hypoglycemia, hyponatremia, micropenis, cryptorchidism, malformations, jaundice, constipation and poor appetite. Great importance should be attached to the prognostic value of magnetic resonance imaging （MRI） in pituitary region,and the pituitary characteristics indicated by MRI are closely associated with the clinical phenotypes of PSIS. Once PSIS is diagnosed, hormone replacement therapy should be performed in early stage and subsequent long- term follow -up is demanded.