cretinism (congenital hypothyroidism)
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Introduction
An uncommon condition resulting from neonatal hypothyroidism. The name cretinism is derived from the french 'chretien' meaning Christ or Christ-like. Victims were considered so mentally retarded, they were incapable of sinning.
Genetics
- defects in DUOX2 are a cause of congenital hypothyroidism
Clinical manifestations
- seldom apparent at birth
- becomes evident in weeks to months
- when manifestations become evident, changes are largely irreversible
- mental retardation
- dry skin (xerosis), rough skin
- wide-set eyes
- periorbital puffiness
- flattened broad nose
- large protruberant tongue
- retarded skeletal growth & brain development when thyroid deficiency occurs early in fetal development
Laboratory
- thyrotropin in blood spot done as part of neonatal screening
- second screening at 2 weeks may detect an additioal 20%[3]
More general terms
More specific terms
- congenital hypothyroidism due to dyshormonogenesis type 1
- congenital hypothyroidism non-goitrous type 1 (CHNG1); congenital hypothyroidism due to TSH resistance
- congenital hypothyroidism non-goitrous type 2 (CHNG2)
- endemic cretinism
- sporadic cretinism
References
- ↑ Cotran et al Robbins Pathologic Basis of Disease, 5th ed. W.B. Saunders Co, Philadelphia, PA 1994 pg 1125
- ↑ Rose SR et al, American Academy of Pediatrics (AAP) Update of newborn screening and therapy for congenital hypothyroidism <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/16740880 <Internet> http://aappolicy.aappublications.org/cgi/content/full/pediatrics;117/6/2290
- ↑ 3.0 3.1 Jones DE, Hart K, Shapira SK et al Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016 MMWR Morb Mortal Wkly Rep 2018;67:782-785 https://www.cdc.gov/mmwr/volumes/67/wr/mm6728a4.htm