Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency

Turton, James P.G., Reynaud, Rachel, Mehta, Ameeta, Torpiano, John, Saveanu, Alexandru, Woods-Townsend, Kathryn, Tiulpakov, Anatoly, Zdravkovic, Vera, Hamilton, Jill, Attard-Montalto, Simon, Parascandalo, Ray, Vella, Cecil, Clayton, Peter E., Shalet, Stephen, Barton, John, Brue, Thierry and Dattani, Mehul T. (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. The Journal of Clinical Endocrinology & Metabolism, 90 (8), 4762-4770. (doi:10.1210/jc.2005-0570). (PMID:15928241)

Abstract

Our data suggest that the phenotype associated with POU1F1 mutations may be more variable, with the occasional preservation of TSH secretion. Additionally, our data revealed POU1F1 mutations in three patients who were diagnosed as having ACTH deficiency but who, on further evaluation, were found to have normal cortisol secretion. Hence, elucidation of the genotype led to further evaluation of the phenotype, with the cessation of cortisol replacement that had been commenced unnecessarily. These data reflect the importance of mutational analysis in patients with CPHD

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Contributors

Author: Kathryn Woods-Townsend

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