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Resistance to thyrotropin-releasing hormone syndrome

ORPHA:99832· ICD-10 E03.1

Definition

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy