A 6-year follow-up of the family with resistance to thyroid hormone syndrome carrying the THR β gene c.728G>A mutation
GUO Manli1, QIU Yali2, LI Jing3, MA Shaogang4.
1.Department of Endocrinology and Metabolism, the Affiliated Suqian Hospital of Xuzhou Medical University, Nanjing Drum Tower Hospital Group Suqian Hospital, Suqian 223800, China; 2.Department of Neonatal Screening Center, Maternal and Child Health Care Hospital of Suqian, Suqian 223800, China; 3.Department of Endocrinology and Metabolism, Suqian First People’s Hospital, Suqian 223800, China; 4.Department of Endocrinology and Metabolism, the Third People’s Hospital of Bengbu, Bengbu 223000, China
GUO Manli,QIU Yali,LI Jing, et al. A 6-year follow-up of the family with resistance to thyroid hormone syndrome carrying the THR β gene c.728G>A mutation[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2023, 53(2): 146-151.
Abstract：Objective: To detect clinical features and gene mutation in the family with resistance to thyroid hormone syndrome (RTH) and to conduct a six-year follow-up. Methods: The proband and her five family members were enrolled in this study for thyroid function, thyroid ultrasound and ECT examination. The THR β gene was considered for mutation screening. Genomic DNA was extracted from peripheral blood leukocytes.Direct sequencing was performed to screen for the mutation in the exon fragments in the proband and her family members. The proband and mutation carrier were followed up regularly. Results: Of the five family members,only her father showed elevated levels of thyroid hormone and TSH, which was consistent with RTH. Both the proband and her father had no signs of hypothyroidism, hyperthyroidism or goiter. However, the father showed a hypoechoic nodule in the left lobe without other malignant signs. Molecular analysis revealed a missense mutation c.728G>A (p.Arg243Gln, p.R243Q) in the exon 7 of THR β gene in two patients with RTH. During the six-year follow up, the proband and her father had no signs of hyperthyroidism or hypothyroidism and therefore were not treated with any drugs. The father showed no significant increase in thyroid nodule volume or any other malignant signs. Conclusion: The heterozyous mutation c.728G>A in the THR β gene was identified in the family with RTH, which requires long-term follow-up.
