Ege University Faculty of Medicine Department of Pediatric Endocrinology and Diabetes, Ege University, 35100 Bornova, Izmir, Turkey.
Tepecik Training and Research Hospital, Department of Genetics, Health Sciences University, Izmir, Turkey.
Hormones (Athens). 2019 Jun;18(2):223-227. doi: 10.1007/s42000-019-00094-9. Epub 2019 Feb 12.
Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis. A 4-year-old male patient was admitted due to short stature, motor-mental retardation, and constipation. At physical examination, coarse facial appearance, eyelid edema, pallor, and umbilical hernia were observed. Primary thyroid hormone resistance should be considered in patients with phenotypically hypothyroid features. Laboratory analysis found moderate elevation in free triiodothyronine (T3) levels, normochromic normocytic anemia, and elevated creatine kinase levels. In conclusion, THRA gene mutation should be considered in patients with clinical hypothyroid findings and increased/moderately elevated free T3, decreased/ normal free thyroxine, normal thyroid-stimulating hormone levels, and increased muscle enzymes.
甲状腺激素受体 α（THRA）基因突变是一种甲状腺激素抵抗综合征，其特征为甲状腺功能检查接近正常但组织特异性表现为甲状腺功能减退。在本病例研究中，我们在突变分析中发现了 THRA 基因的一个新的从头发生 p.G291S 杂合突变。一名 4 岁男性因身材矮小、运动-智力发育迟缓及便秘而入院。体格检查观察到粗糙面容、眼睑水肿、苍白和脐疝。对于表型表现为甲状腺功能减退的患者，应考虑原发性甲状腺激素抵抗。实验室分析发现游离三碘甲状腺原氨酸（T3）水平中度升高、正细胞正色素性贫血和肌酸激酶水平升高。总之，对于具有临床甲状腺功能减退表现且游离 T3 升高/中度升高、游离甲状腺素降低/正常、促甲状腺激素水平正常和肌肉酶升高的患者，应考虑 THRA 基因突变。
