Specific conditions

Specific conditions

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 centers. 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.