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- Title
Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β.
- Authors
Lauffer, Peter; Bikker, Hennie; Garrelfs, Mark R.; Hillebrand, Jacquelien J.G.; de Sonnaville, Marie-Louise C.S.; Zwaveling-Soonawala, Nitash; van Trotsenburg, A.S. Paul
- Abstract
Background: Pituitary resistance to thyroid hormone (PRTH) is often seen in congenital hypothyroidism (CH), presenting as elevated thyrotropin (TSH) values despite (high-)normal thyroid hormone (TH) values achieved by levothyroxine treatment. In this study, we describe a girl with CH who was referred because of difficulties interpreting thyroid function tests. She was thought to have PRTH associated with CH, but genetic studies discovered a pathogenic variant in THRB, causing resistance to TH (RTH-β). Methods: Clinical, genetic, and biochemical data of the proband's family were collected. Results: The 3-year-old girl was diagnosed with CH due to a homozygous pathogenic c.470del p.(Asn157Thrfs*3) SLC5A5 variant in the neonatal period. She needed a notably high levothyroxine dose to normalize TSH, leading to high free thyroxine levels. There were no signs of hyperthyroidism. Sequencing identified a heterozygous pathogenic c.947G>A p.(Arg316His) THRB variant. Conclusions: To our knowledge, this is the first report of concomitant SLC5A5 and THRB variants causing CH and RTH-β.
- Subjects
CONGENITAL hypothyroidism; THYROID hormones; THYROID gland function tests; THYROTROPIN; LEVOTHYROXINE
- Publication
Thyroid, 2021, Vol 31, Issue 11, p1757
- ISSN
1050-7256
- Publication type
Article
- DOI
10.1089/thy.2021.0204