Abstract Library

#4149 A case of multiple endocrine neoplasia type 1 (MEN1) phenotype caused by CDC73 mutation

Introduction: CDC73 gene, also known as HRPT2 gene, its related diseases (CDC73-Related Disorders) mainly include hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid adenocarcinoma, familial isolated hyperparathyroidism (FIHP), which is autosomal dominant inheritance.

Conference:

Presenting Author: Tan H

Authors: Tan H, Chi Y,

Keywords: CDC73, HPT-JT, PNET, phenotype,

#2176 New MENIN Mutation Associated with Familial Isolated Hyperparathyroidism. Clinical Case of Three Young Sisters.

Introduction: The primary hyperparathyroidism (PHPT) is a sporadic disorder in the majority of cases, and only 5-10% of cases are associated with familial syndromes. The following familial syndromes associated with PHPT are known to date: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP). FIHP is defined as hereditary PHPT without the association with other diseases or tumors and may be caused by mutations in MEN1, HRPT2, or CASR genes.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Krupinova K

Authors: Mokrysheva N, Krupinova J, Eremkina A, Tiulpakov A,

Keywords: primary hyperparathyroidism, familial isolated hyperparathyroidism, familial syndromes, MEN1, parathyroid hyperplasia,