Iodide Transport Defect

2020 ◽  
Author(s):  
Keyword(s):  
Iodide Transport ◽  
Transport Defect

scholarly journals Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring’s Health

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria C. Opazo ◽  
Juan Carlos Rivera ◽  
Pablo A. Gonzalez ◽  
Susan M. Bueno ◽  
Alexis M. Kalergis ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Genetic Variations ◽  
Hormone Deficiency ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pregnancy And Lactation ◽  
Transient Congenital Hypothyroidism

Fetus and infants require appropriate thyroid hormone levels and iodine during pregnancy and lactation. Nature endorses the mother to supply thyroid hormones to the fetus and iodine to the lactating infant. Genetic variations on thyroid proteins that cause dyshormonogenic congenital hypothyroidism could in pregnant and breastfeeding women impair the delivery of thyroid hormones and iodine to the offspring. The review discusses maternal genetic variations in thyroid proteins that, in the context of pregnancy and/or breastfeeding, could trigger thyroid hormone deficiency or iodide transport defect that will affect the proper development of the offspring.

Sisters with Iodide Transport Defect Caused by a Mutation of the NIS Gene not Detected in Neonatal Mass Screening for Cretinism

1999 ◽  
Vol 8 (1) ◽  
pp. 35-41
Author(s):  
Hirotake Sawada ◽  
Shinobu Inoue ◽  
Tohru Sugimoto ◽  
Shigeki Nagamachi ◽  
Shinji Kosugi
Keyword(s):  
Mass Screening ◽  
Iodide Transport ◽  
Transport Defect ◽  
Nis Gene

The role of serum thyroglobulin concentration and thyroid ultrasound imaging in the detection of iodide transport defects in infants

1991 ◽  
Vol 124 (4) ◽  
pp. 405-410 ◽  
Author(s):  
Thomas Vulsma ◽  
Johan A. Rammeloo ◽  
Margareth H. Gons ◽  
Jan J. M. de Vijlder
Keyword(s):  
Ultrasound Imaging ◽  
Neonatal Screening ◽  
Ultrasound Image ◽  
High Serum ◽  
Thyroid Ultrasound ◽  
Serum Thyroglobulin ◽  
Iodide Transport ◽  
Thyroid Screening ◽  
Transport Defect ◽  
Neonatal Thyroid Screening

Abstract. When discovered by neonatal screening, a thyroid dyshormonogenesis is usually not recognized as a goitre. Especially a total iodide transport defect can easily be misclassified as thyroid agenesis, since radionuclide imaging cannot visualize the thyroid. We present the only iodide transport defect ever discovered in the Netherlands, the 35th reported in the literature, and the first one found exclusively as a result of neonatal screening. We demonstrate that iodide transport defects, in common with organification and deiodinase defects, can be distinguished from thyroid dysgenesis by demonstrating a normal or enlarged thyroid ultrasound image, and especially by measuring very high serum thyroglobulin levels (above 1000 pmol/l). In the presented case, an iodide-123 saliva-to-serum ratio near unity completed the etiologic classification. Measurement of serum thyroglobulin levels, in combination with thyroid ultrasound imaging, will improve the early identification of hereditary types of congenital hypothyroidism, and especially iodide transport defects, in patients found by neonatal thyroid screening.

scholarly journals Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Wakako Jo ◽  
Katsura Ishizu ◽  
Kenji Fujieda ◽  
Toshihiro Tajima
Keyword(s):  
Thyroid Gland ◽  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Present Report ◽  
Sodium Iodide Symporter ◽  
Loss Of Function ◽  
Laboratory Findings ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pax8 Gene

Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD). Hypothyroidism was detected by neonatal screening and L-thyroxine replacement was started immediately. Although I scintigraphy at 5 years of age showed that the thyroid gland was in the normal position and of small size, his iodide trapping was low. The ratio of the saliva/plasma radioactive iodide was low. He did not have goiter; however laboratory findings suggested that he had partial ITD. Gene analyses showed that the sodium/iodide symporter (NIS) gene was normal; instead, a mutation in the PAX8 gene causing R31H substitution was identified. The present report demonstrates that individuals with defective PAX8 can have partial ITD, and thus genetic analysis is useful for differential diagnosis.

A Novel V59E Missense Mutation in the Sodium Iodide Symporter Gene in a Family with Iodide Transport Defect

Thyroid ◽  
2000 ◽  
Vol 10 (6) ◽  
pp. 471-474 ◽  
Author(s):  
Hirokazu Fujiwara ◽  
Ke-ita Tatsumi ◽  
Susumu Tanaka ◽  
Masahiro Kimura ◽  
Osamu Nose ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Sodium Iodide ◽  
Sodium Iodide Symporter ◽  
Iodide Transport ◽  
Transport Defect

scholarly journals Molecular Analysis of the Sodium/Iodide Symporter: Impact on Thyroid and Extrathyroid Pathophysiology

2000 ◽  
Vol 80 (3) ◽  
pp. 1083-1105 ◽  
Author(s):  
Antonio De la Vieja ◽  
Orsolya Dohan ◽  
Orlie Levy ◽  
Nancy Carrasco
Keyword(s):  
Thyroid Cancer ◽  
Molecular Analysis ◽  
Posttranslational Modifications ◽  
Wide Spectrum ◽  
Sodium Iodide Symporter ◽  
Iodide Transport ◽  
Thyroid Hormone Biosynthesis ◽  
Lactating Mammary Gland ◽  
Transport Defect ◽  
Radioiodide Therapy

The Na+/I−symporter (NIS) is an intrinsic membrane protein that mediates the active transport of iodide into the thyroid and other tissues, such as salivary glands, gastric mucosa, and lactating mammary gland. NIS plays key roles in thyroid pathophysiology as the route by which iodide reaches the gland for thyroid hormone biosynthesis and as a means for diagnostic scintigraphic imaging and for radioiodide therapy in hyperthyroidism and thyroid cancer. The molecular characterization of NIS started with the 1996 isolation of a cDNA encoding rat NIS and has since continued at a rapid pace. Anti-NIS antibodies have been prepared and used to study NIS topology and its secondary structure. The biogenesis and posttranslational modifications of NIS have been examined, a thorough electrophysiological analysis of NIS has been conducted, the cDNA encoding human NIS (hNIS) has been isolated, the genomic organization of hNIS has been elucidated, the regulation of NIS by thyrotropin and I− has been analyzed, the regulation of NIS transcription has been studied, spontaneous NIS mutations have been identified as causes of congenital iodide transport defect resulting in hypothyroidism, the roles of NIS in thyroid cancer and thyroid autoimmune disease have been examined, and the expression and regulation of NIS in extrathyroidal tissues have been investigated. In gene therapy experiments, the rat NIS gene has been transduced into various types of human cells, which then exhibited active iodide transport and became susceptible to destruction with radioiodide. The continued molecular analysis of NIS clearly holds the potential of an even greater impact on a wide spectrum of fields, ranging from structure/function of transport proteins to the diagnosis and treatment of cancer, both in the thyroid and beyond.

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