Objective To explore the clinical characteristics of patients with pituitary stalk interruption syndrome (PSIS).

Methods Clinical data including general characteristics, laboratory test results, and imaging findings of 17 patients with PSIS admitted to the Department of Endocrinology, Zhongshan Hospital, Fudan University from October 2009 to March 2019 were retrospectively analyzed.

Results Of the 17 patients, 3(17.65%) cases were female, and 14 (82.35%) cases were male. The age of onset was (8.12±3.31) years, and the course of disease was (18.59 ±6.87) years. There were 17 (100.00%) cases of hypogonadism, 16 (94.12%) cases of growth hormone deficiency, 14 (82.35%) cases of adrenocortical dysfunction, 17 (100.00%) cases of hypothyroidism, 5 (29.41%) cases of hyperprolactinemia, and 1 (5.88%) cases of central diabetes insipidus. All patients had at least three hormone abnormalities. The previous use of sex hormone, growth hormone, glucocorticoid, thyroid hormone replacement therapy were 10 cases, 7 cases, 3 cases, and 7 cases, respectively.

Conclusions For patients with growth and development disorders and gonadal dysplasia, routine pituitary imaging examination can reduce misdiagnosis and missed diagnosis. Patients with PSIS should be followed up regularly to assess the functions of the anterior and posterior pituitary, which is helpful for timely diagnosis and treatment.