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cretinism (congenital hypothyroidism)
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:
1) seldom apparent at birth
2) becomes evident in weeks to months
3) when manifestations become evident, changes are largely irreversible
4) mental retardation
5) dry skin (xerosis), rough skin
6) wide-set eyes
7) periorbital puffiness
8) flattened broad nose
9) large protruberant tongue
10) 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]
Specific
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
General
hypothyroidism
Database Correlations
OMIM 606759
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
PMID: 16740880
http://aappolicy.aappublications.org/cgi/content/full/pediatrics;117/6/2290
- 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