دورية أكاديمية
أعرض في EDS

Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.

التفاصيل البيبلوغرافية
العنوان: Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
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.
References: EMBO J. 1998 Aug 17;17(16):4760-70. (PMID: 9707435)
J Clin Endocrinol Metab. 1997 Oct;82(10):3246-50. (PMID: 9329347)
Biochem Biophys Res Commun. 1994 Jul 29;202(2):781-7. (PMID: 8048949)
J Endocrinol Invest. 2018 Apr;41(4):447-454. (PMID: 29022276)
J Clin Endocrinol Metab. 1999 Feb;84(2):401-4. (PMID: 10022391)
Thyroid. 2014 Jun;24(6):945-50. (PMID: 24494774)
J Med Genet. 1994 May;31(5):355-9. (PMID: 8064810)
J Clin Endocrinol Metab. 1991 Jan;72(1):32-8. (PMID: 1846005)
Clin Chem. 2009 May;55(5):1044-6. (PMID: 19282355)
Thyroid. 1997 Feb;7(1):35-8. (PMID: 9086567)
J Clin Invest. 1994 Aug;94(2):506-15. (PMID: 8040303)
Ann Pediatr Endocrinol Metab. 2014 Dec;19(4):229-31. (PMID: 25654071)
Thyroid. 2004 Jan;14(1):71-4. (PMID: 15009917)
Best Pract Res Clin Endocrinol Metab. 2007 Jun;21(2):277-305. (PMID: 17574009)
Q J Med. 1987 Oct;65(246):863-70. (PMID: 3449890)
Ann Intern Med. 1995 Oct 15;123(8):572-83. (PMID: 7677297)
Hormones (Athens). 2014 Jan-Mar;13(1):74-8. (PMID: 24722129)
Am J Hum Genet. 2004 Jan;74(1):168-75. (PMID: 14661163)
Endocr Pract. 1995 Jan-Feb;1(1):4-8. (PMID: 15251607)
Thyroid. 2016 Dec;26(12):1804-1806. (PMID: 27758132)
Arq Bras Endocrinol Metabol. 2013 Jul;57(5):393-4. (PMID: 23896807)
Thyroid. 1996 Dec;6(6):571-3. (PMID: 9001191)
J Pediatr. 2003 Sep;143(3):296-301. (PMID: 14517508)
Exp Clin Endocrinol Diabetes. 2004 Feb;112(2):95-7. (PMID: 15031774)
J Clin Endocrinol Metab. 2014 Jul;99(7):E1381-6. (PMID: 24646103)
J Clin Endocrinol Metab. 1998 May;83(5):1448-54. (PMID: 9589637)
Mol Endocrinol. 1997 Apr;11(4):470-80. (PMID: 9092799)
Endocrinol Diabetes Metab Case Rep. 2016;2016:160003. (PMID: 27168936)
J Clin Invest. 2010 Apr;120(4):1345-54. (PMID: 20237409)
Arq Bras Endocrinol Metabol. 2014 Dec;58(9):962-6. (PMID: 25627054)
Pediatr Res. 2009 Sep;66(3):312-6. (PMID: 19542904)
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
الوصف
تدمد:1559-0100
DOI:10.1007/s12020-018-1673-6