Abstract

Multiple endocrine neoplasia 2a (MEN2a) syndrome is one of the rare genetic disorder where prophylactic thyroidectomy is recommended for RET mutation carriers due to increased risk for developing MTC during lifetime. We present a case report of prophylactic total thyroidectomy in a family based on genetic screening that proved to be MTC on histopathology. This is the first reported case in India where siblings underwent codon oriented prophylactic total thyroidectomy based solely on genetic analysis for MEN2a syndrome.

Authors

Agarwal S, Agarwal A, Chand G, Gupta SK, Jain M, Ramakant P

Institution

Department of Endocrine Surgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh.

Source

The Journal of the Association of Physicians of India 60: 2012 Feb pg 127-9

MeSH

Adolescent
Biological Markers
Child
Codon
Female
Genetic Predisposition to Disease
Genetic Testing
Goiter
Humans
India
Male
Multiple Endocrine Neoplasia Type 2a
Neoplastic Syndromes, Hereditary
Parathyroid Neoplasms
Polymerase Chain Reaction
Proto-Oncogene Proteins c-ret
Siblings
Thyroid Neoplasms
Thyroidectomy
Treatment Outcome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22715565