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An unusual presentation of MEN2A.
MedLine Citation:
PMID:  23749818     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
A 35-year-old woman presented with non-specific symptoms of fatigue and weight loss. Radiological investigations diagnosed a metastatic process and large bilateral adrenal masses. Histology from a liver biopsy and skin biopsy confirmed a diagnosis of metastatic medullary thyroid cancer. Further biochemical investigations revealed a positive 24-h urinary metanephrine collection and evidence of primary hyperparathyroidism. Genetic testing confirmed a mutant RET oncogene, confirming our clinical suspicion of multiple endocrine neoplasia type 2 (MEN2A) syndrome. The patient had no family history of endocrine disease and presented with widespread metastatic disease, making this an unusual presentation of MEN2A syndrome. Furthermore cutaneous metastases are rarely encountered in conjunction with metastatic medullary thyroid cancer. This case draws attention to the importance of genetic counselling in first-degree relatives of patients with confirmed MEN2A. This allows for timely diagnosis and reduced morbidity and mortality.
Authors:
R Casey; M Bell; M Keane; A Smyth
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Publication Detail:
Type:  Journal Article     Date:  2013-06-06
Journal Detail:
Title:  BMJ case reports     Volume:  2013     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2013  
Date Detail:
Created Date:  2013-06-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Affiliation:
Department of Medicine, University Hospital Galway, Galway, Ireland.
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