Congenital Hypothyroidism Essay Example | Topics and Well Written Essays - 1000 words

Congenital Hypothyroid glandism - Essay ExampleThose causing the latter are the thyroid peroxidase and thyroglobulin cistrons. These cistrons were initially described, but, most recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) element 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 hereditary 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. entropy from the thyroid cell systems are integrated into the present general scheme of cell proliferation cascades. ( image 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)BibliographyBrent, 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 Fu ture Prospects. Thyroid (204) 434-434.Vono-Toniolo, Jussara and Peter Kopp. Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyr