Congenital Hypothyroidism

Living reference work entry
Part of the Endocrinology book series (ENDOCR)


Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder with a reported incidence more than doubled in recent years. Delayed diagnosis and treatment of CH lead to growth retardation and neurological and psychiatric impairment, which can be largely prevented if thyroid hormone replacement therapy (L-T4 therapy) is commenced within the first 2 weeks of life. Development of neonatal screening programs in most industrialized countries, measuring thyroid-stimulating hormone (TSH) and total thyroxine (T4) in dried blood spots, has allowed early diagnosis of CH. As soon as the diagnosis is confirmed by measuring serum TSH and thyroid hormone levels, L-T4 therapy should be started. Other diagnostic studies (i.e., scintigraphy and ultrasound) to determine the underlying cause of CH should not delay initiation of treatment. Controversies still exist regarding the optimal screening program and management of this disorder.

This chapter provides a summary of significant recent advances in the epidemiology, etiopathogenesis, and treatment of congenital hypothyroidism.


Congenital hypothyroidism Hyperthyrotropinemia Newborn screening Thyroid dysgenesis Thyroid dyshormonogenesis Clinical features Management 


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Authors and Affiliations

  1. 1.Department of Clinical and Experimental Medicine, Endocrinology UnitUniversity Hospital of Pisa, University of PisaPisaItaly

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