Biomaterial Database

Congenital hypothyroidism with hereditary, raised thyroxine binding globulin. 1985

L N Archer, and B P O'Malley, and P G Swift

A boy with congenital hypothyroidism and hereditary raised thyroxine binding globulin is described. This hitherto unreported combination resulted in under treatment of the thyroid deficiency until serum thyroid stimulating hormone measurement became routinely available. Inadequate L-thyroxine replacement treatment between 2 and 7 years of age caused retarded bone maturation, poor growth velocity, and probably added to his educational difficulties.

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
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D003409	Congenital Hypothyroidism	A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.	Cretinism,Myxedema, Congenital,Endemic Cretinism,Fetal Iodine Deficiency Disorder,Cretinism, Endemic,Hypothyroidism, Congenital
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013960	Thyroid Function Tests	Blood tests used to evaluate the functioning of the thyroid gland.	Jostel's TSH Index,Jostel's Thyrotropin Index,Protein-Bound Iodine Test,SPINA-GD,SPINA-GT,Secretory Capacity of the Thyroid Gland,Sum Activity of Peripheral Deiodinases,Thyrotroph Thyroid Hormone Sensitivity Index,Thyroid Gland Function Tests,Function Test, Thyroid,Iodine Test, Protein-Bound,Jostel TSH Index,Jostel Thyrotropin Index,Jostel's TSH Indices,Jostels TSH Index,Jostels Thyrotropin Index,Protein Bound Iodine Test,Protein-Bound Iodine Tests,TSH Index, Jostel's,Test, Protein-Bound Iodine,Test, Thyroid Function,Thyroid Function Test,Thyrotropin Index, Jostel's
D013975	Thyroxine-Binding Proteins	Blood proteins that bind to THYROID HORMONES such as THYROXINE and transport them throughout the circulatory system.	Thyroxine Transport Protein,Thyroxine-Binding Protein,Thyroxine Binding Protein,Thyroxine Binding Proteins