The clinical spectrum of resistance to thyroid hormone Αlpha in children and adults.

THE CLINICAL SPECTRUM OF RESISTANCE TO THYROID HORMONE ΑLPHA IN CHILDREN AND ADULTS. J Clin Res Pediatr Endocrinol. 2020 Apr 29;: Authors: Erbaş İM, Demir K Abstract Resistance to thyroid hormone alpha (RTHα) occurs due to pathogenic heterozygous variants in THRA. The entity was described in 2012 and, until now, a small number of patients with varying severity have been reported. With this review, we summarize and interpret the heterogeneous clinical and laboratory features of all published cases, including ours. Many symptoms and findings are similar to those seen in primary hypothyroidism. However, thyroid-stimulating hormone levels are normal. Free T3 levels are in the upper half of normal range or high and free T4 levels are low or in the lower half of normal range. Alterations in free T3 and free T4 may not be remarkable particularly in adults, possibly contributing to underdiagnosis. In such patients, low reverse T3 levels, normo- or macrocytic anemia or, particularly in children, mildly elevated creatine kinase levels would warrant THRA sequencing. Treatment with L-thyroxine results in improvement in some clinical findings. PMID: 32349464 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research