Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.

ABSTRACT:

Background

Resistance to thyroid hormone alpha (RTHα), a disorder characterized by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor alpha gene mutations, is rare but probably under-recognized. This study sought to correlate the clinical characteristics and response to thyroxine (T4) therapy in two adolescent RTHα patients with the properties of the THRA mutation, affecting both TRα1 and TRα2 proteins, they harbored.

Methods

Clinical, auxological, biochemical, and physiological parameters were assessed in each patient at baseline and after T4 therapy.

Results

Heterozygous THRA mutations occurring de novo were identified in a 17-year-old male (patient P1; c.788C>T, p.A263V mutation) investigated for mild pubertal delay and i

SUBMITTER: Moran C 

PROVIDER: S-EPMC5561448 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature