Apparent resistance to thyroid hormones: From biological interference to genetics.

Apparent resistance to thyroid hormones: From biological interference to genetics. Ann Endocrinol (Paris). 2019 Jul 26;: Authors: Dieu X, Sueur G, Moal V, Boux de Casson F, Bouzamondo N, Bouhours N, Briet C, Illouz F, Reynier P, Coutant R, Rodien P, Mirebeau-Prunier D Abstract Resistance to thyroid hormones syndrome is defined as increased thyroxine (T4) and triiodothyronine (T3) concentrations associated with normal or sometimes increased thyrotropin (TSH) concentration. This is usually due to a pathogenic variant with loss of function of the gene coding for thyroid hormone receptor β (THRB). This discrepancy in thyroid hormones (TH) and TSH concentrations is also frequently observed in the presence of analytical interference, notably alteration of TH transport proteins in serum. During 2017, 58 samples were sent to our laboratory in the Angers University Hospital Rare Thyroid and Hormone Receptor Disease Reference Center in order to identify an etiology for discrepant TSH and TH results. We sequenced the genes involved in TH regulation, action and transport (THRB,THRA, SECISBP2, SLC16A, ALB, TTR, SERPINA7). Free T4 and free T3 assay were performed with a second immunoassay (Siemens ADVIA Centaur). A genetic cause of discrepancy in TH and TSH concentrations, with mutation in THRB, was found in 26% of cases (15/58). Biological interference due to TH serum transport protein variant was found in 24% (14/58) of cases. No pathogenic v...
Source: Annales d'Endocrinologie - Category: Endocrinology Authors: Tags: Ann Endocrinol (Paris) Source Type: research