New genetics in congenital hypothyroidism

Athanasia Stoupa, Dulanjalee Kariyawasam, Marina Muzza, Tiziana de Filippis, Laura Fugazzola, Michel Polak, Luca Persani, Aurore Carré

Research output: Contribution to journalReview articlepeer-review


Introduction: Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental retardation worldwide. CH is due to thyroid development or thyroid function defects (primary) or may be of hypothalamic-pituitary origin (central). Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesis, TD) or defective thyroid hormone synthesis (dyshormonogenesis, DH). TD accounts for about 65% of CH, however a genetic cause is identified in less than 5% of patients. Purpose: The pathogenesis of CH is largely unknown and may include the contribution of individual and environmental factors. During the last years, detailed phenotypic description of patients, next-generation sequence technologies and use of animal models allowed the discovery of novel candidate genes in thyroid development, function and pathways. Results and conclusion: We provide an overview of recent genetic causes of primary and central CH. In addition, mode of inheritance and the oligogenic model of CH are discussed.

Original languageEnglish
Pages (from-to)696-705
Number of pages10
Issue number3
Publication statusPublished - Mar 2021


  • Congenital hypothyroidism
  • Dyshormonogenesis
  • Epigenetics
  • Genetics
  • Oligogenism
  • Thyroid dysgenesis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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