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Hypothyroidism due to iodide transport defect

MedGen UID:
124412
•Concept ID:
C0271826
•
Disease or Syndrome
Synonyms: GDTH I; Genetic defect in thyroid hormonogenesis I; Hypothyroidism due to iodide concentration defect; hypothyroidism due to iodide concentration defect; hypothyroidism due to iodide transport defect; Iodide Transport Defect; Iodide transport defect; iodide transport defect; iodide Transport defect; Iodide transport failure; iodide transport failure; Iodine accumulation defect; iodine accumulation defect; Iodine transport defect; iodine transport defect
SNOMED CT: Iodide transport defect (22558005); Hypothyroidism due to iodide concentration defect (22558005); Hypothyroidism due to iodide transport defect (22558005); Iodine accumulation defect (22558005); Genetic defect in thyroid hormonogenesis I (22558005); GDTH I (22558005); Iodide transport failure (22558005); Iodine transport defect (22558005)
 
Monarch Initiative: MONDO:0043103

Definition

A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypothyroidism due to iodide transport defect

Professional guidelines

PubMed

Treatment of congenital thyroid dysfunction: Achievements and challenges.
Krude H, Kühnen P, Biebermann H
Best Pract Res Clin Endocrinol Metab 2015 Jun;29(3):399-413. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.004. PMID: 26051299
Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment.
Albero R, Cerdan A, Sanchez Franco F
Postgrad Med J 1987 Dec;63(746):1043-7. doi: 10.1136/pgmj.63.746.1043. PMID: 3451231Free PMC Article

Recent clinical studies

Diagnosis

Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
Spitzweg C, Morris JC
Mol Cell Endocrinol 2010 Jun 30;322(1-2):56-63. Epub 2010 Feb 12 doi: 10.1016/j.mce.2010.02.007. PMID: 20153805Free PMC Article

Clinical prediction guides

Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
Spitzweg C, Morris JC
Mol Cell Endocrinol 2010 Jun 30;322(1-2):56-63. Epub 2010 Feb 12 doi: 10.1016/j.mce.2010.02.007. PMID: 20153805Free PMC Article

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