Congenital hypothyroidism

Abstract 

The introduction of neonatal screening for congenital hypothyroidism (CH) has had a dramatic effect on the prognosis of affected children. Thyroxine is essential for neurological and skeletal development and early replacement therapy is critical in optimizing outcome. The severity of CH is variable and the causes diverse, from developmental disorders of thyroid development to disorders of hormone synthesis. An understanding of the mechanisms underlying disorders of the thyroid gland, in some cases at the molecular level, can help both in guiding management and prognosis.

Abbreviations:  CH, Congenital hypothyroidism, CNS, Central nervous system, DIT, Diiodotyrosine, fT3, Free triiodothyronine, fT4, Free thyroxine, MIT, Monoiodotyrosine, T3, Triiodothyronine, T4, Thyroxine, TBG, Thyroid binding globulin, TG, Thyroglobulin, TPO, Thyroid peroxidase, TR, Thyroid hormone receptor, TRH, Thyrotrphin releasing homone, TSH, Thyroid stimulating hormone, TTF, Thyroid transcription factor

Keywords:  Congenital hypothyroidism, Thyroid dysgenesis, Dyshormonogenesis, Thyroid hormone resistance, Central hypothyroidism, Transient hypothyroidism