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Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   MAY 2014 , Volume 17 , Number 5; Page(s) 378 To 382.
 
Paper: 

CASE REPORT: MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A IN AN IRANIAN FAMILY: CLINICAL AND GENETIC STUDIES

 
 
Author(s):  GHAZI ALI ASGHAR, BAGHERI MAHMOUD, TABIBI ALI, SARVGHADI FARZANEH, ABDI HENGAMEH*, HEDAYATI MEHDI, POURAFKARI MARINA, TIRGARI FARROKH, YU RUN
 
* ENDOCRINE RESEARCH CENTER, RESEARCH INSTITUTE FOR ENDOCRINE SCIENCES, SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES, NO. 24, PARVANEH ST., YEMEN ST., CHAMRAN EXP, TEHRAN, IRAN
 
Abstract: 

Multiple endocrine neoplasia (MEN) type 2A, a dominant inherited syndrome caused by germline activating mutations in the RET protooncogene, is characterized by association of medullary thyroid carcinoma, pheochromocytoma and primary hyperparathyroidism. There is limited data on this disease in the Middle East region. In this paper, we present clinical and genetic studies of an Iranian patient and her family members. The patient was a 49-year old Iranian woman who presented with hypertension due to bilateral pheochromocytoma. She had history of a medullary carcinoma of thyroid which had been operated 28 years ago. Analysis of the RET gene in the family revealed a C634R mutation in codon 11 and 3 polymorphisms, G691S, S836S and S904S in codons 11, 14 and 15, respectively, that might have been important in modifying the clinical picture. Due to paucity of information on MEN type 2 in the area, this study can be helpful in portraying the clinical and cytogenetic characteristics of the disease in the region.

 
Keyword(s): GENETIC POLYMORPHISM, MEN2A, RET MUTATION
 
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