Repository logo
 

MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.

Accepted version
Peer-reviewed

Change log

Authors

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

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.

Description

Keywords

Congenital Hypothyroidism, Dual Oxidases, Humans, Infant, Newborn, Infant, Newborn, Diseases, Iodine

Journal Title

Eur J Endocrinol

Conference Name

Journal ISSN

0804-4643
1479-683X

Volume Title

Publisher

Oxford University Press (OUP)
Sponsorship
Wellcome Trust (219496/Z/19/Z)