Connate Myxedema- An Inadequate Thyroid Hormone Production in Newborn Infants

Abstract

Connate myxedema is also known as congenital hypothyroidism is an inborn endocrine disorder, affects 1 in every 3000 to 4000 infants. Numerous genetic defects are related with perpetual congenital hypothyroidism (CH). Ambient atmosphere, iatrogenic and immunologic factors are known to cause transient congenital hypothyroidism, which resolves within first few months of life. Molecular defects of thyroid oxidase system which is composed of at least two proteins may be involved in pathogenesis of lasting transient congenital hypothyroidism in infants with faults in iodide organification, for which the oxidase system is needed. Congenital hypothyroidism is predominantly sporadic but up to 2% of thyroid dysgenesis is inherited and congenital hypothyroidism due to organification faults is often recessively inherited. Levothyroxine is the drug of choice. An infant of 10 months old was presented with hoarseness while crying and noisy breathing. I had reported a case in which patient was diagnosed with congenital hypothyroidism and is being treated with levothyroxine.