Inherited disorders of thyroid metabolism. 1983

E G Lever, and G A Medeiros-Neto, and L J DeGroot

In summary, we have presented a brief survey of the current state of knowledge of inherited disorders of thyroid metabolism. Analysis of cases shows that the biochemical classification covers a wide range of abnormalities and it is likely that further biochemical studies will increase this heterogeneity as well as refining it. Genetic studies are often incomplete, and few in number compared with the classical study by Hutchison and McGirr of Scottish tinker families. Most important, this survey indicates that further research is needed to elucidate the precise molecular mechanisms of the working of the iodide pump, the oxidation and iodination and coupling mechanisms. Study of animal models and DNA sequencing and hybridization work will continue to expand our understanding of abnormalities of thyroglobulin metabolism. We urgently need to find the key to resistance of peripheral and pituitary tissues to thyroid hormone. Subtle dyshormonogenetic abnormalities may await discovery in the field of multinodular goiter and intrathyroidal calcification with goiter. Neonatal screening for hypothyroidism is likely to expand the number of cases for investigation and detailed study. There is an important relationship of dyshormonogenesis to follicular carcinoma. It is hoped that in time we will be able to transform inborn errors into areas of understanding in the realm of the thyroid gland.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007454 Iodides Inorganic binary compounds of iodine or the I- ion. Iodide
D008297 Male Males
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004195 Disease Models, Animal Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. Animal Disease Model,Animal Disease Models,Disease Model, Animal
D005260 Female Females
D006042 Goiter Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC). Goiters
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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