Open AccessGenotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South India
Author(s) -
B Ramesh,
Panchangam Ramakanth Bhargav,
B Rajesh,
Nangedda Vimala Devi,
R. Vijayaraghavan,
Bhongir Aparna Varma
Publication year - 2016
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.192923
Subject(s) - medicine , goiter , phenotype , genotype , pediatrics , genetics , demography , gene , thyroid , biology , sociology
Dyshormonogenetic goiter is one of the most common causes of hypothyroidism in children and adolescents in iodine nonendemic areas. The exact genotype-phenotypic correlations (GPCs) and risk categorization of hypothyroid phenotypes of dyshormonogenetic mutations are largely speculative. The genetic studies in pediatric dyshormonogenesis are very sparse from Indian sub-continent. In this context, we analyzed the implications of TPO, NIS , and DUOX2 gene mutations in hypothyroid children with dyshormonogenetic hypothyroidism (DH) from South India.