Endocrine Abstracts

Congenital hypothyroidism (CH) with a normal located thyroid gland may be transient or permanent and environmental, iatrogenic, immunologic or genetic factors can be involved. PAX-8, TSH receptor and THOX2 gene mutations have been identified in cases of CH with a gland of normal size.In this study we performed genetic analysis of PAX8, TSH receptor and THOX2 genes in 14 children with CH and a normal sized eutopic gland. Genomic DNA was extracted from lym...