Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or interrupted pituitary stalk, impairing delivery of hypothalamic hormones to the pituitary, and anterior pituitary dysplasia.
To summarize the manifestations and treatment of PSIS.
We performed a meta-analysis of PSIS research published between January 1, 2004 and December 31, 2013. Chinese databases were searched using the terms “pituitary stalk interruption syndrome”, “PSIS”, and “vertebral handle interrupts syndrome”; and results limited to clinical studies. Age of onset and diagnosis, sex, symptoms at presentation, main clinical signs, magnetic resonance imaging (MRI), laboratory results, and other data were extracted from qualifying studies.
We included 311 cases from 33 papers in the meta-analysis. The male:female ratio was 257:54, and 183 of the 311 patients had a history of abnormal birth or cerebral hypoxia. MRI showed 239 cases of missing and 62 cases of tapered pituitary stalk. Multiple pituitary hormone deficiency was identified in 190 cases, and single growth hormone deficiency in 75. There were significant associations between missing pituitary stalk and multiple pituitary hormone deficiency, and pituitary stalk tapering and single hormone deficiency (P < 0.01). The clinical signs included growth retardation and the absence or delay in development of secondary sexual characteristics. Therapy was usually inadequate, with only 12 patients (3.86%) undergoing growth hormone replacement.
Abnormal delivery and cerebral hypoxia may be important causes of PSIS, and MRI is valuable for its diagnosis. Measuring the levels of pituitary hormones is necessary for timely diagnosis and treatment.