TY - JOUR
T1 - Genetics of Primary Congenital Hypothyroidism
AU - Zwaveling-Soonawala, Nitash
AU - van Trotsenburg, Paul
PY - 2018
Y1 - 2018
N2 - Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (= primary) or of hypothalamic-pituitary (= central) origin. Primary CH may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis). While thyroid dysgenesis is the most common form of CH, accounting for approximately 85% of cases, genetic defects are only found in a very low proportion of patients. On the other hand, thyroid dyshormonogenesis is less common, but is usually a genetic condition with autosomal recessive inheritance. In this review we provide an overview of all known monogenetic causes of primary CH, including promising new candidate genes. In addition, alternative genetic mechanisms are discussed.
AB - Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (= primary) or of hypothalamic-pituitary (= central) origin. Primary CH may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis). While thyroid dysgenesis is the most common form of CH, accounting for approximately 85% of cases, genetic defects are only found in a very low proportion of patients. On the other hand, thyroid dyshormonogenesis is less common, but is usually a genetic condition with autosomal recessive inheritance. In this review we provide an overview of all known monogenetic causes of primary CH, including promising new candidate genes. In addition, alternative genetic mechanisms are discussed.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85067123774&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29493125
U2 - https://doi.org/10.17458/per.vol15.2018.zst.geneticsprimaryhypothyroidism
DO - https://doi.org/10.17458/per.vol15.2018.zst.geneticsprimaryhypothyroidism
M3 - Article
C2 - 29493125
SN - 1565-4753
VL - 15
SP - 200
EP - 215
JO - Pediatric Endocrinology Reviews
JF - Pediatric Endocrinology Reviews
IS - 3
ER -