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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 28:1369-1370, August 2007
DOI 10.3174/ajnr.A0545
© 2007 American Society of Neuroradiology

Case Report
HEAD & NECK

Combined Pituitary Hormone Deficiency and PROP-1 Mutation in Two Siblings: A Distinct MR Imaging Pattern of Pituitary Enlargement

L.L.F. do Amaral^a, R.M. Ferreira^a, N.P.F.D. Ferreira^a, R.A. Mendona^a, V.H.R. Marussi^a, J.L. da Cunha^b, B.R. Maaranduba^b and J.D. Medeiros^b

^a Department of Neuroradiology, Medimagem, Hospital Beneficência Portuguesa, São Paulo, Brazil
^b Department of Endocrinology, Hospital Brigadeiro, São Paulo, Brazil

Address correspondence to Rafael Ferreira, Neuroradiology, Medimagem, Rua Martiniano de Carvalho, 960, AP 101, Bela Vista, São Paulo, São Paulo, 01321000, Brazil; e-mail: imagemrafael{at}hotmail.com

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.