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.
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