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Congenital Hypothyroidism - Essay Example

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Congenital Hypothyroidism

Those causing the latter are the thyroid peroxidase and thyroglobulin genes. These genes were initially described, but, most recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects were also published.
Figure2: Cartoon of the TSH receptor showing the positions of all the loss of function mutations reported to date. Missense mutations are shown in the circles, frameshift and deletion mutations are indicated by arrows, and splice site mutations aremarked. Chatterjee)
Figure 3: A proposed algorithm for investigating the genetic basis of congenital hypothyroidism. AHO, Albright hereditary osteodystrophy; CH, congenital hypothyroidism; GNAS, stimulatory G protein a subunit gene; NIS, sodium-iodide symporter gene; PAX-8, human Pax-8 gene; PDS, Pendred syndrome gene; TFTs, thyroid function tests; TG, thyroglobulin gene; THOX2, thyroid oxidase 2; TIOD, total iodide organification defect; TITF-1, human TTF-1 gene; TITF-2, human TTF-2 gene; TPO, thyroid peroxidase gene; TSHR, TSH receptor gene; USS, ultrasound scan. (Chatterjee)

Figure 4: The Hypothalamic -pituitary thyroid axis and known genetic defects associated with CHT. (Vono-Toniolo and Kopp)

Figure5.Mitogenic pathways in the thyroid. Data from the thyroid cell systems are integrated into the present general scheme of cell proliferation cascades. (CONTROL OF GROWTH AND DIFFERENTIATION )

Figure 6: Overview of gene therapeutic approaches for thyroid cancer (Spitzweg and Morris)

Table: 1 Phenotypes of TR knockout animals. (Brent)

Brent, Jung-Hsin Hsu and Gregory A. "Thyroid Hormone Receptor Gene Knockouts ." Trends in Endocrinology and Metabolism (1998): 103-111.
Chatterjee, Park SM and VKK. "Genetcis of Congenital hypothyroidism." J.. Med Genetics (2005): 379-389.
"CONTROL OF GROWTH AND DIFFERENTIATION ." Thyroid Manager. 06 04 2008 .
Spitzweg, Christine and John C. Morris. "Gene Therapy for Thyroid Cancer: Current Status and Future Prospects." Thyroid (204): 434-434.
Vono-Toniolo, Jussara and Peter Kopp. "Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyr ...Show more


Congenital hypothyroidism (CHT) is a very common neonatal metabolic disorder, if untreated would results in severe neurodevelopmental impairment and infertility. Usually, congenital hypothyroidism is sporadic, but 2% percent of thyroid dysgenesis is familial…
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Congenital Hypothyroidism essay example
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