Endemic Cretinism

Endemic cretinism is a congenital disorder resulting from severe maternal/fetal iodine deficiency in endemic goiter regions. It manifests in two major forms: (1) neurologic cretinism - mental retardation, deaf-mutism, spastic diplegia/ataxia, normal thyroid function; (2) myxedematous cretinism - severe hypothyroidism, growth retardation, myxedema, intellectual deficit. It is largely preventable by iodized salt and iodine supplementation in pregnancy.

Common Symptoms

Mental retardation; deaf-mutism; spastic diplegia; ataxia; hypothyroidism; myxedema; growth retardation; squint

Causes and Pathogenesis

Severe maternal/fetal iodine deficiency causes fetal thyroid-hormone insufficiency, impairing brain neuronal migration/myelination and somatic growth; in-utero insult predominates in neurologic type, postnatal hypothyroidism in myxedematous type.

Treatment

L-thyroxine replacement for myxedematous form; rehabilitation/special education; iodine repletion

Preventive Measures

Iodized salt; iodine supplementation in pregnancy; endemic-area monitoring; early newborn screening.

Department to Visit

It is recommended to visit the Endocrinology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.