RT Journal Article
SR Electronic
T1 Combined Pituitary Hormone Deficiency and PROP-1 Mutation in Two Siblings: A Distinct MR Imaging Pattern of Pituitary Enlargement
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1369
OP 1370
DO 10.3174/ajnr.A0545
VO 28
IS 7
A1 do Amaral, L.L.F.
A1 Ferreira, R.M.
A1 Ferreira, N.P.F.D.
A1 Mendonça, R.A.
A1 Marussi, V.H.R.
A1 da Cunha, J.L.
A1 Maçaranduba, B.R.
A1 Medeiros, J.D.
YR 2007
UL http://www.ajnr.org/content/28/7/1369.abstract
AB SUMMARY: 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.