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

Autor: do Amaral LL; Department of Neuroradiology, Medimagem, Hospital Beneficência Portuguesa, São Paulo, Brazil., Ferreira RM, Ferreira NP, Mendonça RA, Marussi VH, da Cunha JL, Maçaranduba BR, Medeiros JD
Jazyk: angličtina
Zdroj: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2007 Aug; Vol. 28 (7), pp. 1369-70.
DOI: 10.3174/ajnr.A0545
Abstrakt: 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.
Databáze: MEDLINE