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PROBLEMS OF THE SYNDROME OF FAMILIAL MULTIPLE ENDOCRINE ADENOMAS
Author(s) -
STOCKS A. E.
Publication year - 1967
Publication title -
australasian annals of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0571-9283
DOI - 10.1111/imj.1967.16.4.278
Subject(s) - endocrine system , multiple endocrine neoplasia , medicine , pancreatic islets , pediatrics , endocrinology , islet , biology , genetics , hormone , diabetes mellitus , gene
SUMMARY A study is presented of two families with the syndrome of multiple endocrine adenomas (MEA). In the literature, only 21% of reported patients had affected relatives, which is much less than expected in a disorder thought to be inherited as an autosomal dominant. It is suggested that many isolated cases result from spontaneous mutations which are not transmitted further. An attempt is made to define the limits of the syndrome, and it is proposed that involvement of any two of the following structures be required for the diagnosis of MEA: pituitary, parathyroids, and pancreatic islets. A simple scheme for the investigation of relatives of patients with MEA is presented, and the problems of management of these difficult cases are discussed.