MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.

Authors
Peters, Catherine 
Schoenmakers, Nadia  ORCID logo  https://orcid.org/0000-0002-0847-2884

Change log
Abstract

Transient congenital hypothyroidism (TCH) refers to congenital hypothyroidism which spontaneously resolves in the first few months or years of life. Currently, there is a paucity of reliable markers predicting TCH at diagnosis, and the diagnosis is established following the withdrawal of levothyroxine therapy around 3 years of age. The incidence of TCH is increasing, and it is a major contributor to the overall increase in the incidence of CH in recent studies. Both genetic factors, in particular mutations affecting DUOX2 and DUOXA2, and environmental factors, for example, iodine deficiency and excess, anti- TSHR antibodies and exposure to antithyroid or iodine-rich medications, may cause TCH. Resolution of TCH in childhood may reflect both normal thyroid physiology (decreased thyroid hormone biosynthesis requirements after the neonatal period) and clearance or cessation of environmental precipitants. The relative contributions and interactions of genetic and environmental factors to TCH, and the extent to which TCH may be prevented, require evaluation in future population-based studies.

Publication Date
2022-06-20
Online Publication Date
2022-06-20
Acceptance Date
2022-05-19
Keywords
Congenital Hypothyroidism, Dual Oxidases, Humans, Infant, Newborn, Infant, Newborn, Diseases, Iodine
Journal Title
Eur J Endocrinol
Journal ISSN
0804-4643
1479-683X
Volume Title
Publisher
Oxford University Press (OUP)
Sponsorship
Wellcome Trust (219496/Z/19/Z)