Early diagnosis and treatment of an infant with a novel THRA gene (pC380SfsX9) mutation.

Early diagnosis and treatment of an infant with a novel THRA gene (pC380SfsX9) mutation. Thyroid. 2020 Nov 16;: Authors: Furman AE, Dumitrescu AM, Refetoff S, Weiss RE Abstract Resistance to thyroid hormone (RTH) ⍺ is caused by mutations in THRA. Little is known about the natural history and treatment of RTH⍺ and diagnosis before the age of 1 year has not been previously reported. A de novo heterozygous THRA mutation (pC380SfsX9) was identified in a 10-month-old female investigated for developmental delay, hypotonia, macrocephaly and severe constipation. Treatment with levothyroxine was accompanied by an appropriate rise in T4, T3, as well as decrease in TSH levels and in the T3/T4 ratio with a trend toward normalization of peripheral markers of TH action. THRA pC380SfsX9 results in extreme resistance to TH. PMID: 33198587 [PubMed - as supplied by publisher]
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research