Pituitary Stalk Interruption Syndrome in Chinese People: Clinical Characteristic Analysis of 55 Cases

Abstract

ObjectivePituitary stalk interruption syndrome (PSIS) is characterized by the absence of pituitary stalk, pituitary hypoplasia, and ectopic posterior pituitary. Due to the rarity of PSIS, clinical data are limited, especially in Chinese people. Herein, we analyzed the clinical characteristics of patients diagnosed with PSIS from our center over 10 years.Patients and MethodsWe retrospectively analyzed the clinical manifestations and laboratory and MRI findings in 55 patients with PSIS.ResultsOf the 55 patients with PSIS, 48 (87.3%) were male. The average age was 19.7±6.7 years and there was no familial case. A history of breech delivery was documented in 40 of 45 patients (88.9%) and 19 of 55 patients (34.5%) had a history of dystocia. Short stature was found in 47 of 55 patients (85.5%) and bone age delayed 7.26±5.37 years. Secondary sex characteristics were poor or undeveloped in most patients. The prevalence of deficiencies in growth hormone, gonadotropins, corticotropin, and thyrotropin were 100%, 95.8%, 81.8%, 76.3%, respectively. Hyperprolactinemia was found in 36.4% of patients. Three or more pituitary hormone deficiencies were found in 92.7% of the patients. All patients had normal posterior pituitary function and absent pituitary stalk on imaging. The average height of anterior pituitary was 28 mm, documented anterior pituitary hypoplasia. Midline abnormalities were presented in 9.1% of patients.ConclusionsThe clinical features of our Chinese PSIS patients seem to be different from other reported patients in regarding to the higher degree of hypopituitarism and lower prevalence of midline defects. In addition, our patients were older at the time of case detection and the bone age was markedly delayed. We also had no cases of familial PSIS.

Relationship between pituitary stalk (PS) visibility and the severity of hormone deficiencies: PS interruption syndrome revisited

“…This could be partly explained by the disparity in the ages and recruitment, although varied capacity of reestablishment of portal blood supply to the anterior pituitary might be a better explanation, yet it was impossible to be verified based on our data. Similar to another study of Chinese population, we observed a considerable variation in height. Even in the 27 patients without any treatment history, the height in one‐third of them might almost be considered normal or even in several cases relatively tall despite their uniformity of severe GH deficiency.…”

“…In our study involving 74 adult patients, the age at diagnosis was 25 (22–28) years, significantly older than 3·6 years by Gascoin‐Lachambre et al., 4·0 years by Pinto et al . and 19·7 years by Guo et al., which made our population different than previously reported. We assumed atypical onset symptoms, negligence of short stature at early ages and insufficient understanding of the disease might attribute to this phenomenon to some extent.…”

Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis

“… reported three patients with PSIS who had a single central incisor. However, not all of these features were observed in Han Chinese patients with PSIS . We retrospectively reviewed 112 sporadic cases examined in the past 10 years and only observed sparse hair and single central incisor in our patients.…”

Pituitary stalk interruption syndrome (PSIS) – a rare cause of short stature

“…The posterior pituitary function has been shown to be normal in these patients (1). A study of 55 patients with PSIS revealed documented breech delivery in 88.9% of the patients and the prevalence of deficiencies in growth hormone, gonadotropins, corticotropin, and thyrotropin were 100%, 95.8%, 81.8% and 76.3%, respectively (2). Timely diagnosis and replacement of the deficient hormones is the key to the management of these patients.…”