Endocrine Abstracts

Loss-of-function mutations in the TSH receptor (TSHR) gene are one of the most common known causes of congenital hypothyroidism (CH). While heterozygous mutations result in nonautoimmune isolated hyperthyrotropinemia, homozygous and compound heterozygous mutations may cause overt CH of various severity depending on the localization and type of the mutations.In our study we performed the systematic genetic analysis of the TSHR gene of a cohort of 85 Hunga...