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

AJNR Am J Neuroradiol. 2007 Aug;28(7):1369-70. doi: 10.3174/ajnr.A0545.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Genetic Predisposition to Disease / genetics
  • Homeodomain Proteins / genetics*
  • Humans
  • Hypopituitarism / diagnosis*
  • Hypopituitarism / genetics*
  • Magnetic Resonance Imaging / methods*
  • Male
  • Mutation
  • Pituitary Gland / metabolism
  • Pituitary Gland / pathology*
  • Siblings

Substances

  • Homeodomain Proteins
  • Prophet of Pit-1 protein