Misdiagnosis analysis of 96 cases with pituitary stalk interruption syndrome

Objective To analyze the causes and clinical characteristics of pituitary stalk interruption syndrome (PSIS) which had been misdiagnosed in 96 cases. Methods We retrospectively analyzed the misdiagnosis history and clinical manifestations of 110 patients with PSIS from 2004 to 2014 in Chinese PLA General Hospital, and the misdiagnosed causes and clinical characteristics of PSIS were analyzed. Results Of the 110 patients with PSIS, 96 cases (95.7%) had been misdiagnosed. The mean misdiagnosis period was 6.0 years. The misdiagnosis rate in our hospital was much less than that in other hospital (2.73% vs 84.55%, P< 0.05), especially after 2008. PSIS was misdiagnosed as many other diseases and the most common one was idiopathic growth hormone deficiency (37, 38.5%), followed by hypopituitarism (13, 13.5%), idiopathic hypogonadotropic hypogonadism (8, 8.3%), primary hypothyroidism (8, 8.3%) and others (9, 9.4%). A history of being born in breech presentation was documented in 68 of 96 patients (70.8%) and 27 (28.1%) had a history of dystocia. The prevalence of deficiencies in growth hormone, gonadotropins, corticotropin, and thyrotropin were 100%, 68.8%, 61.5%, and 1.0%, respectively. Hyperprolactinemia was found in 31.3% of patients. Three or more pituitary hormone deficiencies were found in 59.4% of the patients. Conclusion The clinical manifestations of PSIS patients seem to be various with high misdiagnosis rate. For patients with growth hormone deficiency, especially when combined with breech presentation, comprehensive evaluation of anterior pituitary and MRI examination should be performed as early as possible.