التفاصيل البيبلوغرافية
| العنوان: |
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity. |
| المؤلفون: |
Dieu, Xavier, Bouzamondo, Nathalie, Briet, Claire, Illouz, Frédéric, Moal, Valérie, Boux de Casson, Florence, Bouhours-Nouet, Natacha, Reynier, Pascal, Coutant, Régis, Rodien, Patrice, Mirebeau-Prunier, Delphine |
| المصدر: |
Journal of Clinical Medicine; Jul2020, Vol. 9 Issue 7, p2105, 1p |
| مصطلحات موضوعية: |
THYROID hormone receptors, THYROID gland, THYROID hormones |
| مستخلص: |
Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired sensitivity of tissues to thyroid hormone (TH). The alteration of TH-binding proteins, such as in Familial Dysalbuminemic Hyperthyroxinemia (FDH), can mimic the abnormal serum thyroid tests typical of RTH. We aimed to characterize a population referred to our center with suspected RTH and estimate the proportion of patients with FDH. For 303 different families, we collected clinical and hormonal data and sequenced the thyroid hormone receptor β gene (THRB) and exon 7 of the albumin gene (ALB). We found 56 THRB variants (i.e., 38% of the 303 index cases, called RTHβ group). Among the samples screened for FDH variants, 18% had the variant R218H in ALB (FDH group); in addition, 71% of the cases had neither variant (non-FDH/RTHβ group). Patients with FDH had significantly lower free T3 (fT3) and free T4 (fT4) levels and more often an isolated elevation of fT4 than RTHβ patients. Clinically, patients with FDH had fewer symptoms than patients with RTHβ. Our study suggests that FDH should be systematically considered when examining patients suspected of having RTH. In most cases, they present no clinical symptoms, and their biochemical alterations show an elevation of fT4 levels, while fT3 levels are 1.11 times below the upper limit of the assay. [ABSTRACT FROM AUTHOR] |
|
Copyright of Journal of Clinical Medicine is the property of MDPI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
Full Text Finder