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The pathogenesis and behaviour of clinical endocrinopathy in multiple endocrine neoplasia type 1

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Burgess, John Richard (1998) The pathogenesis and behaviour of clinical endocrinopathy in multiple endocrine neoplasia type 1. Unspecified thesis, University of Tasmania.

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Abstract

As a first year medical student at the University of Tasmania in 1984, I
learned of the rare autosomal dominant disease - multiple endocrine
neoplasia type 1 (MEN 1), then newly recognised to be at high
prevalence in the island state of Tasmania. MEN 1 had been reported
to be an "all or none" syndrome characterised by the triad of
parathyroid hyperplasia, pancreatic neoplasia and pituitary tumour. As
an intern undertaking a term on the professorial surgical unit, I was
struck by the diversity of MEN 1 phenotypic disease. Whilst some
patients survived to advanced age with minimal clinical disease, others
developed aggressive polyendocrinopathy early in life. Some four
years later in 1994, as an advanced trainee in endocrinology at the Royal
Hobart Hospital, I was again surprised by aspects of disease expression
in this disorder. In some families specific disease manifestations
appeared to be particularly common, whilst rare in others.

The research presented in this thesis was undertaken by myself
between 1995 and 1998 in an attempt to establish the extent and
aetiology of phenotypic variability in MEN 1 disease expression. My
role in this work spans all aspects of the research - conceptual planning,
submission of applications for funding and institutional ethics
committee approval, patient recruitment, clinical screening, collection
and collation of biomedical data, statistical analysis, and preparation of
manuscripts for publication. In conjunction with this research, I have
established the Tasmanian MEN 1 Register.

AIMS
1. To assess the extent and significance of disease homogeneity and
heterogeneity in families with MEN 1.
2. To determine if a role exists for heritable disease modifier factor(s)
in the pathogenesis of disease associated with MEN 1.
3. To identify factors influencing the clinical behaviour and response
to treatment of endocrine disease associated with MEN 1.
HYPOTHESIS
Whilst a mutation of the MEN 1 gene is central to the pathogenesis of
disease in MEN 1, disease modifier factors have an important role in
determining the development and clinical behaviour of MEN 1 disease
phenotypes.

Item Type: Thesis (Unspecified)
Keywords: Endocrine glands
Copyright Holders: The Author
Additional Information:

Thesis (M.D.)--University of Tasmania, 1998. Includes bibliographical references

Date Deposited: 25 Nov 2014 00:48
Last Modified: 11 Mar 2016 05:55
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