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We report cases of 4 siblings with C634Y-positive MEN 2A (all &amp;lt;11 years old): 3 with medullary thyroid carcinoma (1 had nodal metastasis, and another had a parathyroid adenoma) and 1 with C-cell hyperplasia.<\/jats:p>","DOI":"10.1542\/peds.2005-0033","type":"journal-article","created":{"date-parts":[[2005,8,12]],"date-time":"2005-08-12T01:48:13Z","timestamp":1123811293000},"page":"e468-e471","source":"Crossref","is-referenced-by-count":12,"title":["Multiple Endocrine Neoplasia Type 2A in a Kindred With C634Y Mutation"],"prefix":"10.1542","volume":"116","author":[{"given":"Malaka B.","family":"Jackson","sequence":"first","affiliation":[{"name":"Division of Endocrinology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Guttenberg","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Laboratories"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holly","family":"Hedrick","sequence":"additional","affiliation":[{"name":"Division of Pediatric General and Thoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"Thomas","family":"Moshang","sequence":"additional","affiliation":[{"name":"Division of Endocrinology"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2005,9,1]]},"reference":[{"key":"2021120820044960000_R1","doi-asserted-by":"crossref","unstructured":"Machens A, Niccoli-Sire P, Hoegel J, et al. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med.\u20082003;349:1517\u20131525","DOI":"10.1056\/NEJMoa012915"},{"key":"2021120820044960000_R2","doi-asserted-by":"crossref","unstructured":"Eng C. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med.\u20081996;335:943\u2013951","DOI":"10.1056\/NEJM199609263351307"},{"key":"2021120820044960000_R3","doi-asserted-by":"crossref","unstructured":"Szinnai G, Meier C, Komminoth P, Zumsteg UW. Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis. Pediatrics.\u20082003;111(2). 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Update on the profile of multiple endocrine neoplasia type 2A RET mutations: practical issues and implications for genetic testing. Cancer.\u20081997;80(suppl):557\u2013568","DOI":"10.1002\/(SICI)1097-0142(19970801)80:3+<557::AID-CNCR5>3.0.CO;2-6"},{"key":"2021120820044960000_R7","doi-asserted-by":"crossref","unstructured":"Johnston LB, Chew SL, Lowe D, Reznek R, Monson JP, Savage MO. Horm Res. 2001;55(suppl 1):31\u201335","DOI":"10.1159\/000063460"},{"key":"2021120820044960000_R8","doi-asserted-by":"crossref","unstructured":"Iler, MA, King DR, Ginn-Pease ME, O'Dorisio TM, Sotos JF. Multiple endocrine neoplasia type 2A: a 25-year review. J Pediatr Surg.\u20081999;34:92\u201397","DOI":"10.1016\/S0022-3468(99)90236-1"},{"key":"2021120820044960000_R9","doi-asserted-by":"crossref","unstructured":"Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab.\u20082001;86:5658\u20135671","DOI":"10.1210\/jcem.86.12.8070"},{"key":"2021120820044960000_R10","doi-asserted-by":"crossref","unstructured":"Mulligan L, Eng C, Healy C, Clayton D, et al. Specific mutations of the RET protooncogene are related to disease phenotype in MEN 2a and FMTC families. Nat Genet.\u20081994;6:70\u201374","DOI":"10.1038\/ng0194-70"},{"key":"2021120820044960000_R11","doi-asserted-by":"crossref","unstructured":"Snow KJ, Boyd AE 3rd. Management of individual tumor syndromes, medullary thyroid carcinoma and hyperparathyroidism. Endocrinol Metab Clin North Am.\u20081994;23:157\u2013166","DOI":"10.1016\/S0889-8529(18)30122-1"},{"key":"2021120820044960000_R12","doi-asserted-by":"crossref","unstructured":"Akerstrom G. Invited commentary on primary hyperparathyroidism in multiple endocrine neoplasia IIa: retrospective French multicentric. 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