In:
Journal of 108 - Clinical Medicine and Phamarcy, 108 Institute of Clinical Medical and Pharmaceutical Sciences, ( 2023-02-27)
Abstract:
MEN 2A is a complex autosomal dominant inherited syndrome characterized by pheochromocytoma (PC), medullary thyroid carcinoma (MTC) and primary parathyroid hyperplasia (PHP). We report a case of 26 years old female offended with bilateral pheochromocytoma, medullary thyroid carcinoma and primary hyperparathyroidism due to multiple endocrine neoplasia type 2A confirmed by RET gene mutation p.Cys380Arg according to the GRCh38 (Genome Reference Consortium Humain Build 38 Organism - 2013) classification. The mutation with a change of amino acid 380 from Cys (Cysteine) to Arg (Arginin) is found in more than one-half of kindreds with MEN2A.
Type of Medium:
Online Resource
ISSN:
1859-2872
DOI:
10.52389/ydls.v17iTA
DOI:
10.52389/ydls.v17iTA.1652
Language:
Unknown
Publisher:
108 Institute of Clinical Medical and Pharmaceutical Sciences
Publication Date:
2023