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The pathogenesis and behaviour of clinical endocrinopathy in multiple endocrine neoplasia type 1
thesisposted on 2023-05-27, 01:08 authored by Burgess, John Richard
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."
Rights statementThesis (M.D.)--University of Tasmania, 1998. Includes bibliographical references