Pseudotumor of the pituitary due to PROP-1 deletion

C Teinturier, S Vallette, C Adamsbaum… - Journal of Pediatric …, 2002 - degruyter.com
C Teinturier, S Vallette, C Adamsbaum, M Bendaoud, T Brue, PF Bougneres
Journal of Pediatric Endocrinology and Metabolism, 2002degruyter.com
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 …
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.
De Gruyter