Abstract
Objective To improve the accuracy of the clinical diagnosis of pituitary stalk interruption syndrome(PSIS) and improve its knowledge and diagnosis.Methods Seven cases(five males and two females)were retrospectively reviewed in terms of clinical manifestations,laboratory findings and imaging features.Results Age of onset ranges from 5 to 29 years,height during onset from 118 to 152 cm.Six cases had a history of growth retardation,one had thirst,polydipsia and low urine specific gravity.As for laboratory findings,5 cases had deficiency of growth hormone,gonadotropin hormone and adrenal corticotrophin hormone,among which 3 presented with secondary hypothyroidism,1 with central diabetes insipidus,and 1 with normal pituitary function.MRI findings of reduced volume of the anterior pituitary,vague pituitary stalk,absence of hypersignality of the posterior pituitary,were seen in all cases.Ectopic posterior pituitary was revealed in 6 cases.One had concomitant ChiariI malformation,another with cervical 1-4 level syringomyelia.Conclusion The incidence of PSIS is low.Clinical manifestation is associated with anterior and/or posterior pituitary dysfunction,which could be cryptic during early phase of disease,when obstruction of the pituitary stalk is subtotal.Diagnosis is made primarily based on MRI. Key words: Pituitary stalk interruption syndrome; Growth hormone deficiency; Clinical characteristics
Published Version
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