Published online August 11, 2005
PEDIATRICS Vol. 116 No. 3 September 2005, pp. e468-e471 (doi:10.1542/peds.2005-0033)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Jackson, M. B.
Right arrow Articles by Moshang, T.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Jackson, M. B.
Right arrow Articles by Moshang, T., Jr
Related Collections
Right arrow Genetics & Dysmorphology
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Facebook   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

ELECTRONIC ARTICLE

Multiple Endocrine Neoplasia Type 2A in a Kindred With C634Y Mutation

Malaka B. Jackson, MD*, Marta Guttenberg, MD{ddagger}, Holly Hedrick, MD§ and Thomas Moshang, Jr, MD*

* Division of Endocrinology
{ddagger} Department of Pathology and Clinical Laboratories
§ Division of Pediatric General and Thoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

Multiple endocrine neoplasia type 2A (MEN 2A) is most frequently caused by codon 634 activating mutations. Medullary thyroid carcinoma has occurred before the age of 2, with pheochromocytomas and primary hyperparathyroidism occurring later in childhood. We report cases of 4 siblings with C634Y-positive MEN 2A (all <11 years old): 3 with medullary thyroid carcinoma (1 had nodal metastasis, and another had a parathyroid adenoma) and 1 with C-cell hyperplasia.

Key Words: multiple endocrine neoplasia • MEN 2A • hyperparathyroidism • parathyroid adenoma • medullary thyroid carcinoma • pheochromocytoma • RET protooncogene

Abbreviations: RET, rearranged during transfection • MEN 2A, multiple endocrine neoplasia type 2A • MTC, medullary thyroid carcinoma • PHE, pheochromocytoma • PHPT, primary hyperparathyroidism • iPTH, intact parathyroid

Accepted Mar 30, 2005.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Facebook Facebook   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?