Thyroid Hormone Signalling Disorders
Orpha code: 183631, 181399, 181396
These clinical syndromes all have an estimated pervalence of ~1:40.000, and do not necessarily present with classic alterations in thyroid function tests. As a consequence, diagnosis are often missed and need to be made in highly specialised centres. New causes of signaling defects are still being identified.
Congenital Hypothyroidism
Orpha code: 442, 424
Congenital Hypothyroidism (CH) can be defined as a state in which congenital impairment of the hypothalamic–pituitary–thyroid axis results in a failure, or a risk of failure, to produce sufficient thyroid hormone. The clinical manifestations are often subtle or not present at birth, probably as a result of trans-placental passage of some maternal thyroid hormone and the fact that many infants have some thyroid production of their own. More specific symptoms often do not develop until several months of age.
Congenital hyperthyroidism
Orpha code: 424
Congenital hyperthyroidism is very rare, linked to autonomous functioning of the thyroid follicular cell and need anti-thyroid treatment.
Non-metastatic thyroid macrocarcinoma
Orpha code: 1000, 88, 146, 1332
Thyroid carcinomas can be classified according to the cell of origin.
