Endocrine Abstracts

Purpose: D631Y is a rare mutation associated with MEN2a in which there is an aspartic acid to tyrosine amino acid substitution at codon 631 in exon 11. Common clinical features of this variant of RET mutation are pheochromocytoma in 50%, medullary carcinoma in 30%, primary hyperparathyroidism is very rare. We present the patient harboring RET D631Y mutation.Clinical case: In April 2017 40-year-old woman was admitted to endocrine department of the Almazov...