Article
Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
The Journal of clinical endocrinology and metabolism - 1 Dec 1997
Xie J, Pannain S, Pohlenz J, Weiss R E, Moltz K, Morlot M, Asteria C, Persani L, Beck-Peccoz P, Parma J, Vassart G, Refetoff S
Abstract excerpt
Resistance to TSH (RTSH) is a recently described syndrome of reduced sensitivity to TSH that manifests as euthyroid hyperthyrotropinemia. It is usually identified at birth during routine neonatal screening for congenital hypothyroidism. In less than 2 yr, 13 subjects with RTSH belonging to 8 families have been reported, and all were shown to harbor mutations in the TSH receptor (TSHR) gene. We now report the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.