Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: a distinct MR imaging pattern of pituitary enlargement.
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
LL
Department of Neuroradiology, Medimagem, Hospital Beneficência Portuguesa, São Paulo, Brazil.
Ferreira
R M
RM
Ferreira
N P F D
NP
Mendonça
R A
RA
Marussi
V H R
VH
da Cunha
J L
JL
Maçaranduba
B R
BR
Medeiros
J D
JD
D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009154:Mutation; D010902:Pituitary Gland / Q000378:metabolism / Q000473:pathology*; D035781:Siblings
D018398:Homeodomain Proteins; C102134:Prophet of Pit-1 protein
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