Biomaterial Database

[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)]. 2002

Akio Matsushita, and Hirotoshi Nakamura

Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine.

The TSH receptor belongs to a subfamily of G protein-coupled receptors that mediates the effect of TSH in thyroid development and hormone synthesis. Similarly to many other G protein--coupled receptors, both gain and loss of function mutations have been found in the TSH receptor. Loss of function mutations in the TSH receptor gene were first described in three siblings with resistance to TSH in 1995. To date, 13 pedigrees with TSH receptor mutations of loss of function type have been reported. The phenotype of the patients varies from euthyroid hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia.

UI	MeSH Term	Description	Entries
D007037	Hypothyroidism	A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction.	Central Hypothyroidism,Primary Hypothyroidism,Secondary Hypothyroidism,TSH Deficiency,Thyroid-Stimulating Hormone Deficiency,Central Hypothyroidisms,Deficiency, TSH,Deficiency, Thyroid-Stimulating Hormone,Hormone Deficiency, Thyroid-Stimulating,Hypothyroidism, Central,Hypothyroidism, Primary,Hypothyroidism, Secondary,Hypothyroidisms,Primary Hypothyroidisms,Secondary Hypothyroidisms,TSH Deficiencies,Thyroid Stimulating Hormone Deficiency,Thyroid-Stimulating Hormone Deficiencies
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011989	Receptors, Thyrotropin	Cell surface proteins that bind pituitary THYROTROPIN (also named thyroid stimulating hormone or TSH) and trigger intracellular changes of the target cells. TSH receptors are present in the nervous system and on target cells in the thyroid gland. Autoantibodies to TSH receptors are implicated in thyroid diseases such as GRAVES DISEASE and Hashimoto disease (THYROIDITIS, AUTOIMMUNE).	Receptors, Thyroid Stimulating Hormone,TSH Receptors,Thyroid Stimulating Hormone Receptors,Thyrotropin Receptors,LATS Receptors,Receptor, LATS Immunoglobulins,Receptors, LATS,Receptors, Long-Acting Thyroid Stimulator,Receptors, TSH,TSH Receptor,Thyroid Stimulating Hormone Receptor,Thyrotropin Receptor,Receptor, TSH,Receptor, Thyrotropin,Receptors, Long Acting Thyroid Stimulator
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man