Update of Thyroid Developmental Genes

Athanasia Stoupa; Dulanjalee Kariyawasam; Aurore Carré; Michel Polak

doi:10.1016/j.ecl.2016.01.007

Update of Thyroid Developmental Genes

Endocrinol Metab Clin North Am. 2016 Jun;45(2):243-54. doi: 10.1016/j.ecl.2016.01.007. Epub 2016 Apr 13.

Authors

Athanasia Stoupa¹, Dulanjalee Kariyawasam², Aurore Carré³, Michel Polak⁴

Affiliations

¹ Pediatric Endocrinology, Diabetology and Gynecology Department, Necker Enfants-Malades University Hospital, Assistance Publique Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France; Imagine Institute, Inserm U1163, 24 boulevard du Montparnasse, 75015, Paris, France.
² Pediatric Endocrinology, Diabetology and Gynecology Department, Necker Enfants-Malades University Hospital, Assistance Publique Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France; Imagine Institute, Inserm U1163, 24 boulevard du Montparnasse, 75015, Paris, France; Cochin Institute, Inserm U1016, 22 rue Mechain, 75014, Paris, France.
³ Imagine Institute, Inserm U1163, 24 boulevard du Montparnasse, 75015, Paris, France; Cochin Institute, Inserm U1016, 22 rue Mechain, 75014, Paris, France.
⁴ Pediatric Endocrinology, Diabetology and Gynecology Department, Necker Enfants-Malades University Hospital, Assistance Publique Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France; Imagine Institute, Inserm U1163, 24 boulevard du Montparnasse, 75015, Paris, France; Cochin Institute, Inserm U1016, 22 rue Mechain, 75014, Paris, France; Paris Descartes University, Sorbonne Paris Cité, 12 rue de l'École de Médecine, 75006, Paris, France. Electronic address: michel.polak@aphp.fr.

PMID: 27241962
DOI: 10.1016/j.ecl.2016.01.007

Abstract

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine-sufficient regions and includes a spectrum of developmental anomalies. The genetic components of TD are complex. Although a sporadic disease, advances in developmental biology have revealed monogenetic forms of TD. Inheritance is not based on a simple Mendelian pattern and additional genetic elements might contribute to the phenotypic spectrum. This article summarizes the key steps of normal thyroid development and provides an update on responsible genes and underlying mechanisms of TD. Up-to-date technologies in genetics and biology will allow us to advance in our knowledge of TD.

Keywords: Congenital hypothyroidism; Epigenetics; Genetics; Mendelian inheritance; Thyroid development; Thyroid dysgenesis; Thyroid gland; Transcription factors.

Publication types

Review

MeSH terms

Congenital Hypothyroidism / genetics*
Genes, Developmental*
Humans
Iodine / deficiency
Thyroid Dysgenesis / genetics*
Thyroid Gland / embryology

Substances

Iodine