دورية أكاديمية
Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
العنوان: | Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center. |
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المؤلفون: | Ramos LS; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Kizys MML; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Kunii IS; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Spinola-Castro AM; Division of Pediatric Endocrinology, Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Nesi-França S; Division of Pediatric Endocrinology, Department of Pediatrics, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil., Guerra RA; Endocrinology Unit, Hospital do Servidor Público Municipal (HSPM), São Paulo, Brazil., Camacho CP; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Martins JRM; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Maciel RMB; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Chiamolera MI; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. mchiamolera@unifesp.br.; Thyroid Diseases Unit, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. mchiamolera@unifesp.br. |
المصدر: | Endocrine [Endocrine] 2018 Dec; Vol. 62 (3), pp. 628-638. Date of Electronic Publication: 2018 Jul 19. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Humana Press Country of Publication: United States NLM ID: 9434444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0100 (Electronic) Linking ISSN: 1355008X NLM ISO Abbreviation: Endocrine Subsets: MEDLINE |
أسماء مطبوعة: | Publication: Feb. 1996- : Totowa, NJ : Humana Press Original Publication: Houndsmills, Basingstoke, Hants, UK : Macmillan Press, c1994- |
مواضيع طبية MeSH: | Thyroid Hormone Receptors beta/*genetics , Thyroid Hormone Resistance Syndrome/*diagnosis, Adolescent ; Adult ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Thyroid Function Tests ; Thyroid Hormone Receptors beta/metabolism ; Thyroid Hormone Resistance Syndrome/genetics ; Thyroid Hormone Resistance Syndrome/metabolism ; Thyrotropin/blood ; Thyroxine/blood ; Triiodothyronine/blood ; Young Adult |
مستخلص: | Aim: Resistance to thyroid hormone (RTH), characterized by persistent hyperthyroxinemia with non-suppressed thyrotropin (TSH), is mostly caused by mutations in thyroid hormone receptor beta gene (THRB). Two differential diagnoses should be considered due to similar clinical and laboratory findings: TSH-producing pituitary adenoma (TPA) and Familial Dysalbuminemic Hyperthyroxinemia (FDH). The aim of this study is to describe our single tertiary center experience in the molecular diagnosis of RTH in Brazilian patients, analyzing their clinical and laboratory characteristics and the most common differential diagnosis. Subjects and Methods: We enrolled 30 subjects with clinical and laboratory features of RTH. Patient´s evaluations included clinical examination, thyroid hormone profile and imaging tests. Sequencing analysis for THRB hot spot region was conducted on all patients, and those without mutations in beta isoform of the thyroid hormone receptor (TRβ) (non-TR-RTH) were investigated for albumin gene (ALB) mutation. Results: Seventeen patients presented mutations in TRβ (RTHβ); six were non-TR-RTH, three had a diagnosis of FDH with a mutation in ALB, and four were diagnosed with TPA. Two characteristics were different to what is commonly described in the literature: higher serum TSH levels in RTHβ patients when compared to the non-TR-RTH group, but this difference did not extend to free T4 (FT4) level; also the percentage of non-TR-RTH was higher than what was reported in other series. Conclusion: In the present series, most cases were RTHβ with higher levels of TSH. We described three novel mutations in THRB (p.M313V, p.R320G and p.R438P) and the first patients with FDH molecular diagnosis (p.R242H) documented in Brazil. |
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فهرسة مساهمة: | Keywords: Beta isoform of the thyroid hormone receptor; Resistance to thyroid hormone; TSH-producing adenoma and familial dysalbuminemic hyperthyroxinemia |
المشرفين على المادة: | 0 (Thyroid Hormone Receptors beta) 06LU7C9H1V (Triiodothyronine) 9002-71-5 (Thyrotropin) Q51BO43MG4 (Thyroxine) |
تواريخ الأحداث: | Date Created: 20180721 Date Completed: 20190411 Latest Revision: 20190411 |
رمز التحديث: | 20231215 |
DOI: | 10.1007/s12020-018-1673-6 |
PMID: | 30027432 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1559-0100 |
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DOI: | 10.1007/s12020-018-1673-6 |