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

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency
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
4762-4770
Turton, James P.G.
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Reynaud, Rachel
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Mehta, Ameeta
e168bd92-07e4-40bc-b121-6ff255b36502
Torpiano, John
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Saveanu, Alexandru
ca5c352a-4c5b-4d8c-957e-c4bcef6956f8
Woods-Townsend, Kathryn
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Tiulpakov, Anatoly
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Zdravkovic, Vera
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Hamilton, Jill
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Attard-Montalto, Simon
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Parascandalo, Ray
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Vella, Cecil
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Clayton, Peter E.
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Shalet, Stephen
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Barton, John
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Brue, Thierry
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Dattani, Mehul T.
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Turton, James P.G.
91acf9c8-c726-4157-a0ff-7e2c03a3fc46
Reynaud, Rachel
a5fb0e47-f727-4f71-8500-add1971a18b0
Mehta, Ameeta
e168bd92-07e4-40bc-b121-6ff255b36502
Torpiano, John
c31e5b05-49b0-46e4-a7fe-6c9238935d80
Saveanu, Alexandru
ca5c352a-4c5b-4d8c-957e-c4bcef6956f8
Woods-Townsend, Kathryn
af927fa3-30b6-47d9-8b4d-4d254b3a7aab
Tiulpakov, Anatoly
3e2b2741-781b-49ee-bdd4-7a712fdb0387
Zdravkovic, Vera
df482c85-1026-4c57-9474-25b75a92558f
Hamilton, Jill
5bc64335-0e88-4742-b993-b48d871d9c3f
Attard-Montalto, Simon
82a307cd-8b6a-498b-944c-8496d4ca25b2
Parascandalo, Ray
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Vella, Cecil
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Clayton, Peter E.
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Shalet, Stephen
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Barton, John
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Brue, Thierry
a274911a-f694-4d70-9b61-7c55b8ef0bd7
Dattani, Mehul T.
536002c2-9284-4800-95db-65375bb0afbd

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)

Record type: Article

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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More information

Published date: August 2005
Organisations: Southampton Education School, Mathematics, Science & Health Education

Identifiers

Local EPrints ID: 340433
URI: http://eprints.soton.ac.uk/id/eprint/340433
PURE UUID: 2734078b-1940-407b-bbe2-ba6eb7a11429
ORCID for Kathryn Woods-Townsend: ORCID iD orcid.org/0000-0003-3376-6988

Catalogue record

Date deposited: 26 Mar 2015 09:19
Last modified: 09 Nov 2021 03:13

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Contributors

Author: James P.G. Turton
Author: Rachel Reynaud
Author: Ameeta Mehta
Author: John Torpiano
Author: Alexandru Saveanu
Author: Anatoly Tiulpakov
Author: Vera Zdravkovic
Author: Jill Hamilton
Author: Simon Attard-Montalto
Author: Ray Parascandalo
Author: Cecil Vella
Author: Peter E. Clayton
Author: Stephen Shalet
Author: John Barton
Author: Thierry Brue
Author: Mehul T. Dattani

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