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Thyroglobulin Deficiency

MedGen UID:
883095
•Concept ID:
C4053936
•
Disease or Syndrome

Definition

Subnormal production of thyroglobulin, the glycoprotein precursor of thyroid hormones, presumed to result from loss-of-function mutation(s) in the TG gene. [from NCI]

Professional guidelines

PubMed

The importance of nutritional factors and dietary management of Hashimoto's thyroiditis.
Ihnatowicz P, Drywień M, Wątor P, Wojsiat J
Ann Agric Environ Med 2020 Jun 19;27(2):184-193. Epub 2019 Oct 2 doi: 10.26444/aaem/112331. PMID: 32588591
Recurrent aphthous stomatitis - Etiology, serum autoantibodies, anemia, hematinic deficiencies, and management.
Chiang CP, Yu-Fong Chang J, Wang YP, Wu YH, Wu YC, Sun A
J Formos Med Assoc 2019 Sep;118(9):1279-1289. Epub 2018 Nov 14 doi: 10.1016/j.jfma.2018.10.023. PMID: 30446298
Oral lichen planus - Differential diagnoses, serum autoantibodies, hematinic deficiencies, and management.
Chiang CP, Yu-Fong Chang J, Wang YP, Wu YH, Lu SY, Sun A
J Formos Med Assoc 2018 Sep;117(9):756-765. Epub 2018 Feb 19 doi: 10.1016/j.jfma.2018.01.021. PMID: 29472048

Recent clinical studies

Etiology

Thyroid cancer recurrence in patients clinically free of disease with undetectable or very low serum thyroglobulin values.
Kloos RT
J Clin Endocrinol Metab 2010 Dec;95(12):5241-8. Epub 2010 Sep 15 doi: 10.1210/jc.2010-1500. PMID: 20843945
A challenge of several concepts of free thyroxin index for assessing thyroid status in patients with altered thyroid-binding protein capacity.
Wilke TJ
Clin Chem 1983 Jan;29(1):56-9. PMID: 6401233

Diagnosis

Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination.
Beltrão CB, Juliano AG, Chammas MC, Watanabe T, Sapienza MT, Marui S
Endocr J 2010;57(7):587-93. Epub 2010 May 13 doi: 10.1507/endocrj.k10e-009. PMID: 20467163
Pediatric thyroid testing issues.
DeBoer MD, Lafranchi SH
Pediatr Endocrinol Rev 2007 Oct;5 Suppl 1:570-7. PMID: 18167471
Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis.
Medeiros-Neto G, Bunduki V, Tomimori E, Gomes S, Knobel M, Martin RT, Zugaib M
J Clin Endocrinol Metab 1997 Dec;82(12):4239-42. doi: 10.1210/jcem.82.12.4407. PMID: 9398747
Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.
Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G
J Clin Endocrinol Metab 1989 Dec;69(6):1137-47. doi: 10.1210/jcem-69-6-1137. PMID: 2584351
Normal level of thyroglobulin messenger ribonucleic acid in a human congenital goiter with thyroglobulin deficiency.
Cabrer B, Brocas H, Perez-Castillo A, Pohl V, Navas JJ, Targovnik H, Centenera JA, Vassart G
J Clin Endocrinol Metab 1986 Oct;63(4):931-40. doi: 10.1210/jcem-63-4-931. PMID: 3745406

Therapy

Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination.
Beltrão CB, Juliano AG, Chammas MC, Watanabe T, Sapienza MT, Marui S
Endocr J 2010;57(7):587-93. Epub 2010 May 13 doi: 10.1507/endocrj.k10e-009. PMID: 20467163
Does recombinant human thyrotropin-stimulated positron emission tomography with [18F]fluoro-2-deoxy-D-glucose improve detection of recurrence of well-differentiated thyroid carcinoma in patients with low serum thyroglobulin?
Vera P, Kuhn-Lansoy C, Edet-Sanson A, Hapdey S, Modzelewski R, Hitzel A, d'Anjou J, Basuyau JP
Thyroid 2010 Jan;20(1):15-23. doi: 10.1089/thy.2008.0416. PMID: 20017617
Diagnostic and therapeutic confusion caused by TBG deficiency in an 18 years old adolescent.
Ploner O, Mayer D, Ziegler B, Hehrmann R
Exp Clin Endocrinol Diabetes 1997;105 Suppl 4:79. doi: 10.1055/s-0029-1211941. PMID: 9439924
Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis.
Medeiros-Neto G, Bunduki V, Tomimori E, Gomes S, Knobel M, Martin RT, Zugaib M
J Clin Endocrinol Metab 1997 Dec;82(12):4239-42. doi: 10.1210/jcem.82.12.4407. PMID: 9398747

Prognosis

Thyroid cancer recurrence in patients clinically free of disease with undetectable or very low serum thyroglobulin values.
Kloos RT
J Clin Endocrinol Metab 2010 Dec;95(12):5241-8. Epub 2010 Sep 15 doi: 10.1210/jc.2010-1500. PMID: 20843945
Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination.
Beltrão CB, Juliano AG, Chammas MC, Watanabe T, Sapienza MT, Marui S
Endocr J 2010;57(7):587-93. Epub 2010 May 13 doi: 10.1507/endocrj.k10e-009. PMID: 20467163

Clinical prediction guides

Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination.
Beltrão CB, Juliano AG, Chammas MC, Watanabe T, Sapienza MT, Marui S
Endocr J 2010;57(7):587-93. Epub 2010 May 13 doi: 10.1507/endocrj.k10e-009. PMID: 20467163
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM
Clin Endocrinol (Oxf) 2010 Jan;72(1):112-21. Epub 2009 May 2 doi: 10.1111/j.1365-2265.2009.03621.x. PMID: 19438905
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
Gutnisky VJ, Moya CM, Rivolta CM, Domené S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM
J Clin Endocrinol Metab 2004 Feb;89(2):646-57. doi: 10.1210/jc.2003-030587. PMID: 14764776
Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.
Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G
J Clin Endocrinol Metab 1989 Dec;69(6):1137-47. doi: 10.1210/jcem-69-6-1137. PMID: 2584351
Hereditary congenital goitre with thyroglobulin deficiency causing hypothyroidism.
Medeiros-Neto GA, Knobel M, Cavaliere H, Simonetti J, Mattar E
Clin Endocrinol (Oxf) 1984 Jun;20(6):631-42. doi: 10.1111/j.1365-2265.1984.tb00113.x. PMID: 6467633

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