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Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)
PROP1 mutations are rare in sporadic cases of CPHD, although the prevalence rises if there is a positive family history or if the patients are carefully selected with respect to the endocrine and neuroradiological phenotype. There is considerable phenotypic variability in families with the same mutation, indicating the role of other genetic or environmental factors on phenotypic expression. Finally, the pituitary enlargement that is observed in patients with PROP1 mutations can wax and wane in size before eventual involution.
10-18
Turton, James P.G.
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Mehta, Ameeta
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Raza, Jamal
d266b5d1-924f-4aa7-89f2-52fc580e8bbb
Woods-Townsend, Kathryn
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Tiulpakov, Anatoly
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Cassar, Joseph
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Chong, Kling
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Thomas, Paul Q.
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Eunice, Marumudi
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Ammini, Ariachery C.
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Bouloux, Pierre M.
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Starzyk, Jerzy
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Hindmarsh, Peter C.
132a86fd-5d29-4dc2-a01b-ffa1a5665746
Dattani, Mehul T.
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Turton, James P.G.
91acf9c8-c726-4157-a0ff-7e2c03a3fc46
Mehta, Ameeta
e168bd92-07e4-40bc-b121-6ff255b36502
Raza, Jamal
d266b5d1-924f-4aa7-89f2-52fc580e8bbb
Woods-Townsend, Kathryn
af927fa3-30b6-47d9-8b4d-4d254b3a7aab
Tiulpakov, Anatoly
3e2b2741-781b-49ee-bdd4-7a712fdb0387
Cassar, Joseph
a40fab24-aede-4263-a7f9-1a942d89eb98
Chong, Kling
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Thomas, Paul Q.
ec86495c-a951-4817-8c3c-44c4599599b2
Eunice, Marumudi
db06c9ff-ed96-4f0b-8297-f333f4c7fbd5
Ammini, Ariachery C.
5a56bd67-225d-44ae-9c90-f6a6fb86e2e3
Bouloux, Pierre M.
a0f636c9-38e0-4752-8211-17b64588bc7b
Starzyk, Jerzy
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Hindmarsh, Peter C.
132a86fd-5d29-4dc2-a01b-ffa1a5665746
Dattani, Mehul T.
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Turton, James P.G., Mehta, Ameeta, Raza, Jamal, Woods-Townsend, Kathryn, Tiulpakov, Anatoly, Cassar, Joseph, Chong, Kling, Thomas, Paul Q., Eunice, Marumudi, Ammini, Ariachery C., Bouloux, Pierre M., Starzyk, Jerzy, Hindmarsh, Peter C. and Dattani, Mehul T. (2005) Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clinical Endocrinology, 63 (1), 10-18. (doi:10.1111/j.1365-2265.2005.02291.x). (PMID:15963055)

Record type: Article

Abstract

PROP1 mutations are rare in sporadic cases of CPHD, although the prevalence rises if there is a positive family history or if the patients are carefully selected with respect to the endocrine and neuroradiological phenotype. There is considerable phenotypic variability in families with the same mutation, indicating the role of other genetic or environmental factors on phenotypic expression. Finally, the pituitary enlargement that is observed in patients with PROP1 mutations can wax and wane in size before eventual involution.

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More information

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

Identifiers

Local EPrints ID: 340432
URI: http://eprints.soton.ac.uk/id/eprint/340432
PURE UUID: e9e8228c-7579-4a3c-835a-7658c99e1c22
ORCID for Kathryn Woods-Townsend: ORCID iD orcid.org/0000-0003-3376-6988

Catalogue record

Date deposited: 26 Mar 2015 09:11
Last modified: 09 Nov 2021 03:13

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Contributors

Author: James P.G. Turton
Author: Ameeta Mehta
Author: Jamal Raza
Author: Anatoly Tiulpakov
Author: Joseph Cassar
Author: Kling Chong
Author: Paul Q. Thomas
Author: Marumudi Eunice
Author: Ariachery C. Ammini
Author: Pierre M. Bouloux
Author: Jerzy Starzyk
Author: Peter C. Hindmarsh
Author: Mehul T. Dattani

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