Main Article Content
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.
Anthony T. Neurocognitive aspects of hypothyroidism. Arch Intern Med. 1988;158(13):1413-18.
Kara J, Bruce A, Elizabeth N, David S, David S, Lewis E, Stephen H. Congenital hypothyroidism caused by excess prenatal maternal iodine ingestion. The Journal of Pediatrics. 2012;161(4):760-62.
Marvin L, Ho‐Wen H, Inderneel S, Massachusetts Pediatric Endocrine Work Group. The increased incidence of congenital hypothyroidism: Fact or fancy? Clinical Endocrinology. 2011;75(6):806- 10.
Mahin H, Silva H, Arman A, Mojtaba K, Pooyan K, Negar N. Screening of congenital hypothyroidism in preterm, low birth weight and very low birth weight neonates: A systematic review. Pediatrics & Neonatology. 2018;59(1):3-14.
Olivieri A, Fazzini C, Medda E. The Italian Study Group for Congenital Hypothyroidism. Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening. Horm Res Paediatr. 2015;83(2): 86-93.
Karin A, Scott H, Leanne Rein RN, David S, Richard M, Michael S, Jerald C, Stephen H. Initial treatment dose of L-thyroxine in congenital hypothyroidism. The Journal of Pediatrics. 2002;141(6): 786-92.
Park SM, Chatterjee VKK. Genetics of congenital hypothyroidism. Journal of Medical Genetics. 2005;42(5):379-89.
Daniel A, Iris G, Becky T, Mena S. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. The Journal of Pediatrics. 2004;145(2):190-93.
Maynika V, Stephen H. Congenital hypothyroidism. Orphanet Journal of Rare Diseases. 2010;5(1):17.
Samir N. Respiratory manifestations in infants with hypothyroidism. Archives of Disease in Childhood. 1962;37(196):603-05.
Frances B. Hypothyroidism in childhood. British Medical Journal. 1951;1(4716): 1169-76.