Item type:Thesis, Open Access

Prävalenz der Multiplen Endokrinen Neoplasie Typ I (MENI) bei jungen Patienten mit offenbar sporadischem primären Hyperparathyreoidismus oder sporadischen pankreatikoduodenalen endokrinen Tumoren

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Date

2007-11-29

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Publisher

Philipps-Universität Marburg
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Supervisors

Abstract

The appropriate treatment for a sporadic endocrine tumour may be different from those that present as part of the multiple endocrine neoplasia type 1 (MEN1) syndrome. As primary hyperparathyroidism (pHPT) and pancreaticoduodenal endocrine tumors (PETs) are the most common organ manifestations of MEN1, the prevalence of germline mutations in the MEN1 gene was determined in young patients with apparently sporadic pHPT or PETs. Eighteen of 705 patients with pHPT and 11 of 93 patients with PETs operated on between 1987 and 2001 had no family history of MEN1, only one organ manifestation and were aged 40 years or less at the time of diagnosis. Fifteen patients with pHPT and eigth with PETs agreed to MEN1 gene mutation analysis, which was performed by single-strand conformational variant analysis and direct DNA sequencing. Two of 15 patients (13.3 per cent) with apparently sporadic pHPT had a MEN1 germline mutation. Both mutations were found in patients with pHPT due to multiglandular disease, where as the remaining 13 patients had a solitary adenoma. None of the eight patients with PETs carried a MEN1 germline mutation. Sporadic pHPT due to multiglandular disease in patients younger than 40 years may represent the first organ manifestation of MEN1 despite a negative family history.

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Dates
Created: 2007Issued: 2007-11-29Updated: 2011-08-10
DOI
https://doi.org/10.17192/z2007.0743
Faculty
Medizin
Publisher
Philipps-Universität Marburg
Language
ger
Data types
DoctoralThesis
Keywords
Pancreaticoduodenal endocrine tumourspHPTPETPrimary hyperparathyroidismMultiple endocrine neoplasia type 1MEN I
DFG-subjects
Junge PatientenMEN IpHPTPET
DDC-Numbers
610
License
https://rightsstatements.org/vocab/InC-NC/1.0/
URI
https://open.uni-marburg.de/handle/10.17192/z2007.0743
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Hall, Alexander: Prävalenz der Multiplen Endokrinen Neoplasie Typ I (MENI) bei jungen Patienten mit offenbar sporadischem primären Hyperparathyreoidismus oder sporadischen pankreatikoduodenalen endokrinen Tumoren. : Philipps-Universität Marburg 2007-11-29. DOI: https://doi.org/10.17192/z2007.0743.

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