Pseudotumor of the pituitary due to PROP-1 deletion.
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.
Teinturier
C
C
Department of Pediatric Endocrinology, Hopital Saint-Vincent de Paul, Paris, France. teinturier@cochin.inserm.fr
Vallette
S
S
Adamsbaum
C
C
Bendaoud
M
M
Brue
T
T
Bougnères
P F
PF
D002648:Child; D004247:DNA / Q000032:analysis / Q000235:genetics; D017353:Gene Deletion; D006128:Growth / Q000502:physiology; D013006:Growth Hormone / Q000627:therapeutic use; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D010907:Pituitary Hormones / Q000097:blood; D010911:Pituitary Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology; D011559:Pseudotumor Cerebri / Q000097:blood / Q000235:genetics* / Q000473:pathology; D020133:Reverse Transcriptase Polymerase Chain Reaction
D018398:Homeodomain Proteins; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; D013006:Growth Hormone; D004247:DNA; D006854:Hydrocortisone