aetiology
Last reviewed 01/2018
Aetilogy of congenital hypothyroidism can be:
- permanent congenital hypothyroidism
- primary hypothyroidism - the commonest causes include
- thyroid agenesis
- thyroid dysgenesis - due to a developmental anomaly of the thyroid gland e.g. - ectopic thyroid or hypoplastic thyroid as a result of a failure of normal descent of the thyroid in development
- thyroid dyshormonogenesis – due to impaired hormone production
- central or secondary hypothyroidism
- most commonly presents as a part of a disorder causing congenital hypopituitarism
- isolated TSH deficiency
- thyrotropin-releasing hormone deficiency or resistance
- peripheral hypothyroidism
- resistance to thyroid hormone
- defect in thyroid hormone transport
- transient congenital hypothyroidism
- maternal ingestion of antithyroid drugs
- transfer of maternal TSH receptor blocking antibodies through the placenta
- iodine deficiency – both in mother and neonate (1)
There is an association with Down's syndrome (1)
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