Congenital Goiter with Defective Iodide Transport

Wolff, J.

doi:10.1210/edrv-4-3-240

Cited by 76 publications

(50 citation statements)

References 69 publications

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“…ITD is an autosomal recessive condition characterized by hypothyroidism, goiter, reduced or absent thyroid uptake of radioiodide, and a low saliva/plasma iodide ratio (1,36). Currently, at least 12 ITD-causing mutations of NIS have been identified (37).…”

Section: Congenital Iodide Transport Defect (Itd)mentioning

confidence: 99%

The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

2009

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Thyroid hormones are essential for normal development and metabolism. Thyroid hormone biosynthesis requires iodide uptake into the thyrocytes and efflux into the follicular lumen, where it is organified on selected tyrosyls of thyroglobulin. Uptake of iodide into the thyrocytes is mediated by an intrinsic membrane glycoprotein, the sodium-iodide symporter (NIS), which actively cotransports two sodium cations per each iodide anion. NIS-mediated transport of iodide is driven by the electrochemical sodium gradient generated by the Na(+)/K(+)-ATPase. NIS is expressed in the thyroid, the salivary glands, gastric mucosa, and the lactating mammary gland. TSH and iodide regulate iodide accumulation by modulating NIS activity via transcriptional and posttranscriptional mechanisms. Biallelic mutations in the NIS gene lead to a congenital iodide transport defect, an autosomal recessive condition characterized by hypothyroidism, goiter, low thyroid iodide uptake, and a low saliva/plasma iodide ratio. Pendrin is an anion transporter that is predominantly expressed in the inner ear, the thyroid, and the kidney. Biallelic mutations in the SLC26A4 gene lead to Pendred syndrome, an autosomal recessive disorder characterized by sensorineural deafness, goiter, and impaired iodide organification. In thyroid follicular cells, pendrin is expressed at the apical membrane. Functional in vitro data and the impaired iodide organification observed in patients with Pendred syndrome support a role of pendrin as an apical iodide transporter.

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Section: Congenital Iodide Transport Defect (Itd)mentioning

confidence: 99%

The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

2009

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“…exact biochemical mechanism is unknown, but since de fects of Na and K transport or of ATP processes would affect a number of cell types, the potential defect in trans port might be a thyroid-specific single-protein defect. In the majority of the described cases there is a familial his tory [10]. The major diagnostic features are the discrepan cy between ultrasound and scintigraphy findings, with a normal or enlarged thyroid gland in ultrasound and no or little l23I or "T c uptake, and a low saliva/serum ratio of the administered 123I or "Tc (table 1).…”

Section: Etiological Grouping Of Patients With a Gland In Placementioning

confidence: 98%

Etiological Grouping of Permanent Congenital Hypothyroidism with a Thyroid Gland in situ

Grüters

Finke²,

Krude³

et al. 1994

Horm Res

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“…Iodide transport defect (ITD; OMIM 274400) is a rare form of dyshormonogenetic CH caused by NIS gene mutation transmitted by an autosomal recessive pattern. This disorder is characterized by the inability of the thyroid gland to maintain a concentration gradient of iodide between the plasma and the thyroid follicular cell (4,5). NIS is an integral plasma membrane glycoprotein located at the basolateral portion of the thyroid follicular cell and mediates active transport of iodide into the follicular thyroid cell, the essential first step for thyroid hormone biosynthesis.…”

Section: Introductionmentioning

confidence: 99%

Congenital Hypothyroidism and Late-Onset Goiter: Identification and Characterization of a Novel Mutation in the Sodium/Iodide Symporter of the Proband and Family Members

Montanelli

Agretti²,

Marco³

et al. 2009

Thyroid

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Congenital Goiter with Defective Iodide Transport

Cited by 76 publications

References 69 publications

The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

Etiological Grouping of Permanent Congenital Hypothyroidism with a Thyroid Gland in situ

Congenital Hypothyroidism and Late-Onset Goiter: Identification and Characterization of a Novel Mutation in the Sodium/Iodide Symporter of the Proband and Family Members

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