Intrafamilial and Age-Dependent Variability in Resistance to Thyroid Hormone Alpha: A Case Report
Elise Nauwynck, Sofie Ryckx, Daniel Klink, Sietske Vermaning, Marije Meuwissen, Lisa Billion, Jean De Schepper · 2026
Read Intrafamilial and Age-Dependent Variability in Resistance to Thyroid Hormone Alpha: A Case Report by Elise Nauwynck, Sofie Ryckx, Daniel Klink, Sietske Vermaning, Marije Meuwissen, Lisa Billion, Jean De Schepper (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13427315.txt.
Description
Elise Nauwynck and colleagues describe variable resistance to thyroid hormone alpha within one family in a 2026 case report. The rare disorder, caused by variants in the THRA receptor gene, produces tissue-level hypothyroidism despite near-normal blood hormone levels. Two sisters and their mother all carried the same heterozygous missense variant, found after the daughters were checked for short stature, rising adiposity, and delayed bone age.
Blood tests showed low-normal free T4, high-normal free T3, a raised ratio between them, and normal TSH. Other features, such as delayed teeth, chronic constipation, and liver findings, varied by person and age. Family testing reveals how one variant can present unevenly across generations.
Catalog record
| CREATOR | Elise Nauwynck, Sofie Ryckx, Daniel Klink, Sietske Vermaning, Marije Meuwissen, Lisa Billion, Jean De Schepper |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 25679 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |