Koulouri O, Moran C, Halsall D, Chatterjee K, Gurnell M. Pitfalls in the measurement and interpretation of thyroid function tests. Best Pract Res Clin Endocrinol Metab. 2013;27(6):745–62.
Article CAS PubMed PubMed Central Google Scholar
Campi I, Covelli D, Moran C, Fugazzola L, Cacciatore C, Orlandi F, et al. The differential diagnosis of discrepant thyroid function tests: insistent pitfalls and updated flow-chart based on a long-standing experience. Front Endocrinol. 2020;11:432.
Bartalena L, Piantanida E. Serum thyroid hormone-binding proteins. Encyclopedia of endocrine diseases. Elsevier; 2019. p. 442–7.
Refetoff S. Inherited thyroxine-binding globulin abnormalities in man. Endocr Rev. 1989;10(3):275–93.
Article CAS PubMed Google Scholar
Pappa T, Ferrara AM, Refetoff S. Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab. 2015;29(5):735–47.
Article CAS PubMed PubMed Central Google Scholar
Begum M, Islam MT, Hossain SR, Bhuyan GS, Halim MA, Shahriar I, et al. Mutation spectrum in TPO gene of Bangladeshi patients with thyroid dyshormonogenesis and analysis of the effects of different mutations on the structural features and functions of TPO protein through in silico approach. Biomed Res Int. 2019; 2019.
Bhatkar SV, Rajan MG, Velumani A, Samuel AM. Thyroid hormone binding protein abnormalities in patients referred for thyroid disorders. Indian J Med Res. 2004;120(3):160.
Gawandi S, Jothivel K, Kulkarni S. Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function. J Endocrinol Invest. 2022:1–9.
Carvalho GA, Weiss RE, Vladutiu AO, Refetoff S. Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Thyroid. 1998;8(2):161–5.
Article CAS PubMed Google Scholar
Gomes-Lima CJ, Maciel AAFL, de Oliveira AM, da Cunha VS, Mazzeu JF, Bleicher L, et al. Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modelling. Gene. 2018;666:58–63.
Article CAS PubMed Google Scholar
Okamoto H, Mori Y, Tani Y, Nakagomi Y, Sano T, Ohyama K, et al. Molecular analysis of females manifesting thyroxine-binding globulin (TBG) deficiency: selective X-chromosome inactivation responsible for the difference between phenotype and genotype in TBG-deficient females. J Clin Endocrinol Metab. 1996;81(6):2204–8.
Leung AK. Ectopic thyroid gland and thyroxine-binding globulin excess. Acta Pædiatrica. 1986;75(5):872–4.
Menon G. Congenital hypothyroidism with raised thyroxine binding globulin. J R Soc Med. 1988;81(12):736–7.
Article CAS PubMed PubMed Central Google Scholar
Burr WA, Ramsden DB, Hoffenberg R. Hereditary abnormalities of thyroxine-binding globulin concentration: a study of 19 kindreds with inherited increase or decrease of thyroxine-binding globulin. QJM: An International Journal of Medicine. 1980;49(3):295–313.
Archer LN, O’Malley BP, Swift PG. Congenital hypothyroidism with hereditary, raised thyroxine binding globulin. Arch Dis Child. 1985;60(8):766–8.
Article CAS PubMed PubMed Central Google Scholar
Alain N, Zipf WB. Short stature and thyroxine-binding globulin excess: improvement with triiodothyronine treatment. Pediatrics. 1988;81(5):674–9.
Mori Y, Jing P, Kayama M, Fujieda K, Hasegawa T, Nogimori T, et al. Gene amplification as a common cause of inherited thyroxine-binding globulin excess analysis of one familial and two sporadic cases. Endocrine J. 1999;46(4):613–9.
Ozbek MN, Uslu AB, Onenli-Mungan N, Yuksel B, Pohlenz J, Topaloglu AK. Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families. J Pediatr Endocrinol Metab. 2009;22(11):1033–40.
Article CAS PubMed Google Scholar
Cangul H, Aycan Z, Olivera-Nappa A, Saglam H, Schoenmakers NA, Boelaert K, et al. Thyroid dyshormonogenesis is mainly caused by TPO mutations in the consanguineous community. Clin Endocrinol. 2013;79(2):275–81.
Bas VN, Aycan Z, Cangul H, Kendall M, Agladioglu SY, Cetinkaya S, et al. A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect. J Pediatr Endocrinol Metab. 2014;27(3–4):383–7.
Anne RP, Rahiman EA. Congenital hypothyroidism in India: A systematic review and meta-analysis of prevalence, screen positivity rates, and etiology. Lancet Reg Health Southeast Asia. 2022;2022: 100040.
Kollati Y, Akella RRD, Naushad SM, Borkar D, Thalla M, Nagalingam S, et al. Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism. Mol Biol Rep. 2020;47:7467–75.
Article CAS PubMed Google Scholar
Balmiki N, Bankura B, Guria S, Das TK, Pattanayak AK, Sinha A, et al. Genetic analysis of thyroid peroxidase (TPO) gene in patients whose hypothyroidism was found in adulthood in West Bengal. India Endocrine J. 2015;61(3):289–96.
Ramesh BG, Bhargav PR, Rajesh BG, Devi NV, Vijayaraghavan R, Varma BA. Genomics and phenomics of Hashimoto's thyroiditis in children and adolescents: a prospective study from Southern India. Ann Transl Med. 2015;3(19).
Guria S, Bankura B, Balmiki N, Pattanayak AK, Das TK, Sinha A, et al. Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis. Int J Endocrinol. 2014;2014.
Leey J, Cryer P. Discrepant thyroid function test results in a 44-year-old man. Clin Chem. 2013;59(12):1703–6.
Article CAS PubMed Google Scholar
Thyroid hormone resistance and its management. Baylor University Medical Center Proceedings; 2016. Taylor & Francis.
Salvatore D, Cohen R, Kopp PA, Larsen PR, Melmed S, Auchus RJ, et al. Thyroid pathophysiology and diagnostic evaluation. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier 2020.
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