Abstract
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. Key words: Pituitary stalk interruption syndrome; Infant, newborn; Infant; Clinical characteristics; Diagnosis; Therapy
Published Version
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