Patients with combined pituitary hormone deficiency due to a PROP-1 mutation may present with a distinct MR imaging pattern of an enlarged adenohypophysis with striking hypointensity on T2-weighted images.
This MRI pattern may aid PROP-1 diagnosis; leaves open generalizability without larger confirmatory series.
Mutations of the PROP-1 gene are the most frequent genetic defect in patients with combined pituitary hormone insufficiency. We present the cases of 2 siblings with PROP-1 mutations whom we observed longitudinally. Their initial pituitary MR imaging examinations showed identical findings: an enlarged adenohypophysis, with striking hypointensity on T2-weighted images and slight hyperintensity on T1-weighted images. In one of the children, the follow-up MR imaging obtained 3 years after hormonal replacement revealed a decrease in the size of the anterior pituitary lobe.
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Amaral et al. (2007) studied this question.
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