Pseudotumor of the pituitary due to PROP-1 deletion

J Pediatr Endocrinol Metab. 2002 Jan;15(1):95-101. doi: 10.1515/jpem.2002.15.1.95.

Abstract

Hypopituitarism associated with pituitary mass in childhood is most frequently the consequence of craniopharyngioma or Rathke's cleft cyst. We report a patient with an intrasellar pseudotumor associated with hypopituitarism, which led us to a misdiagnosis of intrasellar craniopharyngioma. After spontaneous involution of the mass, diagnosis was revised. DNA analysis showed a deletion in the Prophet of Pit-1 (PROP-1) gene, a pituitary transcription factor. It is important to recognize that a PROP-1 deletion can cause pituitary pseudotumor that can be mistaken for a craniopharyngioma or Rathke's pouch cyst.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • DNA / analysis
  • DNA / genetics
  • Gene Deletion*
  • Growth / physiology
  • Growth Hormone / therapeutic use
  • Homeodomain Proteins / genetics*
  • Humans
  • Hydrocortisone / therapeutic use
  • Magnetic Resonance Imaging
  • Male
  • Pituitary Hormones / blood
  • Pituitary Neoplasms / blood
  • Pituitary Neoplasms / genetics*
  • Pituitary Neoplasms / pathology
  • Pseudotumor Cerebri / blood
  • Pseudotumor Cerebri / genetics*
  • Pseudotumor Cerebri / pathology
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Homeodomain Proteins
  • Pituitary Hormones
  • Prophet of Pit-1 protein
  • Growth Hormone
  • DNA
  • Hydrocortisone