Clinical manifestations and prognostic analysis of four patients with thyroid peroxidase gene mutations
10.3760/cma.j.cn311282-20241029-00503
- VernacularTitle:4例甲状腺过氧化物酶基因突变患者的临床表现及预后分析
- Author:
Rongguang PENG
1
;
Jie ZHANG
;
Chenchen DONG
;
Rulai HAN
;
Lingyang MENG
;
Haorong LI
;
Lei JIN
;
Wenzhong ZHOU
;
Liyun SHEN
;
Yulin ZHOU
;
Jiqi YAN
;
Shu WANG
;
Lei YE
Author Information
1. 上海交通大学医学院附属瑞金医院内分泌代谢病科，上海市内分泌代谢病研究所，国家代谢性疾病临床医学研究中心（上海），国家卫生健康委员会内分泌代谢病重点实验室，上海市内分泌肿瘤重点实验室 200025
- Publication Type:Journal Article
- Keywords:
Congenital hypothyroidism;
Thyroid peroxidase;
Gene mutation;
Molecular genetics;
Diagnosis;
Prognosis
- From:
Chinese Journal of Endocrinology and Metabolism
2025;41(1):46-53
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.
