Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: A distinct MR imaging pattern of pituitary enlargement

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Abstract

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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Do Amaral, L. L. F., Ferreira, R. M., Ferreira, N. P. F. D., Mendonça, R. A., Marussi, V. H. R., Da Cunha, J. L., … Medeiros, J. D. (2007). Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: A distinct MR imaging pattern of pituitary enlargement. American Journal of Neuroradiology, 28(7), 1369–1370. https://doi.org/10.3174/ajnr.A0545

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