Congenital hypothyroidism

Journal of Pediatric Endocrinology & Metabolism : JPEM
Mohammad A Abduljabbar, Ashraf M Afifi

Abstract

Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helpe...Continue Reading

Citations

Mar 19, 2014·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Christos KoromilasStylianos Tsakiris
Mar 30, 2013·Critical Care Clinics·Amelie von Saint Andre-von ArnimJerry J Zimmerman
May 17, 2014·BMJ Case Reports·B SellappanS Cherian
Aug 9, 2016·European Journal of Medical Genetics·Hong JiangKuichun Zhu
Mar 23, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Luke CielonkoDon P Wilson
Mar 16, 2019·Scientific Reports·Katherine L O'ShaughnessyMary E Gilbert
Jul 10, 2019·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Molly C ChapmanJesse L Courtier
Jan 1, 2014·Personalized Medicine·Mark E SamuelsGuy Van Vliet

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