Ontology highlight
ABSTRACT:
SUBMITTER: Lee CC
PROVIDER: S-EPMC3657457 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Lee Ching Chin CC Harun Fatimah F Jalaludin Muhammad Yazid MY Heh Choon Han CH Othman Rozana R Mat Junit Sarni S
International journal of endocrinology 20130429
Congenital hypothyroidism (CH) with multinodular goiter (MNG) is uncommonly seen in children. However, CH associated with goiter is often caused by defective Thyroid peroxidase (TPO) gene. In this study, we screened for mutation(s) in the TPO gene in two siblings with CH and MNG and their healthy family members. The two sisters, born to consanguineous parents, were diagnosed with CH during infancy and received treatment since then. They developed MNG during childhood despite adequate L-thyroxine ...[more]