Open AccessAsymptomatic Children with Multiple Endocrine Neoplasia Type 1 Mutations May Harbor Nonfunctioning Pancreatic Neuroendocrine Tumors
Author(s) -
Paul Newey,
Jeshmi Jeyabalan,
Gerard Walls,
Paul T. Christie,
Fergus Gleeson,
S. Gould,
Paul Johnson,
Rachel R. Phillips,
Fiona Ryan,
Brian Shine,
Michael R. Bowl,
Rajesh V. Thakker
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-0564
Subject(s) - men1 , penetrance , multiple endocrine neoplasia , asymptomatic , neuroendocrine tumors , context (archaeology) , endocrine system , medicine , pituitary tumors , pathology , endocrinology , hormone , biology , genetics , gene , phenotype , paleontology
Multiple endocrine neoplasia type 1 (MEN1) is characterized by the occurrence of parathyroid, pituitary, and pancreatic tumors. MEN1, an autosomal dominant disorder, has a high degree of penetrance, such that more than 95% of patients develop clinical manifestations by the fifth decade, although this is lower at approximately 50% by age 20 yr. However, the lower penetrance in the younger group, which is based on detecting hormone-secreting tumors, may be an underestimate because patients may have nonfunctioning tumors and be asymptomatic.
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