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Clinical features and detection of congenital hypothyroidism

Stephen LaFranchi, MD
Section Editor
Mitchell E Geffner, MD
Deputy Editor
Alison G Hoppin, MD


Congenital primary hypothyroidism, occurring in approximately 1:2000 to 1:4000 newborns, is one of the most common preventable causes of intellectual disability worldwide. There is an inverse relationship between age at treatment initiation and intelligence quotient (IQ) later in life, so that the longer the condition goes undetected, the lower the IQ [1]. (See "Intellectual disability in children: Definition, diagnosis, and assessment of needs".)

Most newborn babies with congenital hypothyroidism have few or no clinical manifestations of thyroid hormone deficiency, and the majority of cases are sporadic. As a result, it is not possible to predict which infants are likely to be affected. For these reasons, newborn screening programs in which either thyroxine (T4) or thyrotropin (thyroid-stimulating hormone [TSH]) are measured in heel-stick blood specimens were first developed in the mid-1970s to detect this condition as early as possible [2]. These screening efforts have been largely successful, but more severely affected infants may still have a slightly reduced IQ and other neurologic deficits despite prompt diagnosis and initiation of therapy.

This topic will review the epidemiology, causes, clinical manifestations, and diagnosis of congenital hypothyroidism, and its detection by newborn screening in full-term infants. Related content can be found in the following topic reviews:

(See "Treatment and prognosis of congenital hypothyroidism".)

(See "Thyroid physiology and screening in preterm infants".)

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Literature review current through: Nov 2017. | This topic last updated: Nov 14, 2017.
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