Published online August 11, 2005
PEDIATRICS Vol. 116 No. 3 September 2005, pp. e468-e471 (doi:10.1542/peds.2005-0033)
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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.