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Introduction Congenital hypothyroidism (CH) represents the most common congenital endocrine disorder in humans affecting approximately 1 of 2,000-4,000 live births [ 1 , 2 ]. The majority of CH cases are due to thyroid dysgenesis (TD), which

, Leger J, Simon-Carre A, Lyonnet S, Pelet A, Czernichow P, Polak M: Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatr Res 2005; 57: 908–913. 39

critical for thyroid hormone production, e.g. the sodium/iodide transporter, thyroid peroxidase, thyroid oxidase 2, thyroglobulin, and dehalogenase. About 80% of congenital hypothyroidism is not accompanied by goiter but due to thyroid dysgenesis. In this

largely been due to the number of patients examined in each study. A prevalence of 8% of ectopic thymus occurring in young children with congenital hypothyroidism related to thyroid dysgenesis was reported [ 16 ]. For these patients, abnormal thymus

the mechanisms involved in the regulation of this gene. Thus, the present study describes the effect of the main thyroid regulators and the role of transcriptional factors (TF) involved in thyroid dysgenesis on human thyroid DuOx2 promoter activity

and thyroid dysgenesis [ 16 , 17 , 18 , 19 ]. Conclusions We identified novel heterozygous NKX2-1 frameshift mutations in 2 patients with atypical phenotypes of BLT syndrome: choreoathetosis associated with discrepant thyroid phenotypes

(NIS), IYD and SLC26A7 . Also, monoallelic variants in DUOX2 and DUOXA2 can cause TCH. Thyroid dysgenesis (TD), now responsible for 60–65% of primary CH, refers to a phenotypic spectrum of aberrant thyroid gland development and includes athyreosis

. ( https://doi.org/10.1530/EJE-14-0621 ) 4 Grasberger H Ringkananont U Croxson M Refetoff S . Resistance to thyroid hormone in a patient with thyroid dysgenesis . Thyroid 2005 15 730 – 733 . ( https://doi.org/10.1089/thy.2005.15.730 ) 5

Regulation of Thyroid Hormone Action Hypothalamic-Pituitary-Thyroid Axis The thyroid gland produces mainly the pro-hormone T4 (3,5,3′,5′- L -tetraiodothyronine, thyroxine) but also secretes smaller amounts of the active hormone T3 (3

: PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab 2005;90:455-462. 10.1210/jc.2004-1358 15494458