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
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Child
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DNA / analysis
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DNA / genetics
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Gene Deletion*
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Growth / physiology
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Growth Hormone / therapeutic use
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Homeodomain Proteins / genetics*
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Humans
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Hydrocortisone / therapeutic use
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Magnetic Resonance Imaging
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Male
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Pituitary Hormones / blood
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Pituitary Neoplasms / blood
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Pituitary Neoplasms / genetics*
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Pituitary Neoplasms / pathology
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Pseudotumor Cerebri / blood
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Pseudotumor Cerebri / genetics*
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Pseudotumor Cerebri / pathology
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Reverse Transcriptase Polymerase Chain Reaction
Substances
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Homeodomain Proteins
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Pituitary Hormones
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Prophet of Pit-1 protein
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Growth Hormone
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DNA
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Hydrocortisone