Article
A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.
Clinical endocrinology - 1 Aug 2011
Tenenbaum-Rakover Yardena, Sobrier Marie-Laure, Amselem Serge
Abstract excerpt
CONTEXT: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types producing GH, TSH and PRL. Although the first mutations in humans were reported in 1992, to date, less than 25 different mutations of POU1F1 have been identified worldwide. OBJECTIVES: To describe the long-term follow-up of a 22-year-old male of Israeli...
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