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Defective Thyroglobulin Synthesis

MedGen UID:
1383394
•Concept ID:
C4329703
•
Disease or Syndrome

Definition

Impairment in the intracellular synthesis of thyroglobulin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDefective Thyroglobulin Synthesis

Professional guidelines

PubMed

Intrauterine diagnosis and management of fetal goitrous hypothyroidism: a report of an Iranian family with three consecutive pregnancies complicated by fetal goiter.
Mirsaeid Ghazi AA, Ordookhani A, Pourafkari M, Fallahian M, Bahar A, Hedayati M, Hafizi A, Azizi F
Thyroid 2005 Dec;15(12):1341-7. doi: 10.1089/thy.2005.15.1341. PMID: 16405406

Recent clinical studies

Etiology

Mutations of the thyroglobulin gene and its relevance to thyroid disorders.
Rubio IG, Medeiros-Neto G
Curr Opin Endocrinol Diabetes Obes 2009 Oct;16(5):373-8. doi: 10.1097/MED.0b013e32832ff218. PMID: 19633549

Diagnosis

Mutations of the thyroglobulin gene and its relevance to thyroid disorders.
Rubio IG, Medeiros-Neto G
Curr Opin Endocrinol Diabetes Obes 2009 Oct;16(5):373-8. doi: 10.1097/MED.0b013e32832ff218. PMID: 19633549
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
A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.
Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G
J Clin Endocrinol Metab 1995 Nov;80(11):3356-60. doi: 10.1210/jcem.80.11.7593451. PMID: 7593451
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

Therapy

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

Clinical prediction guides

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
Normal thyroglobulin and thyroperoxidase gene expression in thyroid congenital defective thyroglobulin synthesis.
Targovnik HM, Varela V, Abatangelo C, Wajchenberg BL, Medeiros-Neto G
Thyroid 1991 Winter;1(4):339-45. doi: 10.1089/thy.1991.1.339. PMID: 1726786
Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis.
Targovnik HM, Varela V, Juvenal GJ, Propato F, Chester HA, Krawiec L, Frechtel G, Moran DH, Perinetti HA, Pisarev MA
J Endocrinol Invest 1990 Nov;13(10):797-806. doi: 10.1007/BF03349625. PMID: 2096156
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

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