Article
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism - 1 Aug 2005
Turton James P G, Reynaud Rachel, Mehta Ameeta, Torpiano John, Saveanu Alexandru, Woods Kathryn S, Tiulpakov Anatoly, Zdravkovic Vera, Hamilton Jill, Attard-Montalto Simon, Parascandalo Ray, Vella Cecil, Clayton Peter E, Shalet Stephen, Barton John, Brue Thierry, Dattani Mehul T
Abstract excerpt
CONTEXT: Mutations within the gene encoding the pituitary-specific transcription factor POU1F1 are associated with combined pituitary hormone deficiency (CPHD). Most of the affected individuals manifest GH, prolactin, and TSH deficiency. OBJECTIVE: We have now screened 129 individuals with CPHD and isolated GH deficiency for mutations within POU1F1. RESULTS: Causative mutations were identified in 10 of 129...
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