Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)

Kelberman, D., Turton, J.P.G., Woods-Townsend, Kathryn, Mehta, A., Al-Khawari, M., Greening, J., Swift, P.G F., Otonkoski, T., Rhodes, S.J. and Dattani, M.T. (2009) Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). Clinical Endocrinology, 70 (1), 96-103. (doi:10.1111/j.1365-2265.2008.03326.x). (PMID:19128366)

Abstract

Mutations in PROP1 are a frequent cause of familial CPHD. We have described four novel mutations in PROP1 in 3 pedigrees, all resulting in PROP1 deficiency by different mechanisms. The phenotypic variation observed in association with PROP1 mutations both within and between families, together with the evolving nature of hormone deficiencies and sometimes changing pituitary morphology indicates a need for continual monitoring of these patients.

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Contributors

Author: Kathryn Woods-Townsend

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