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The thyroid hormone (TH) plays a pivotal role in the intricate orchestration of physiological processes, exerting profound effects on development, metabolism, and homeostasis throughout different life stages.
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An Ex vivo Culture System to Study Thyroid Development
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Update of Thyroid Developmental Genes.

Athanasia Stoupa1, Dulanjalee Kariyawasam2, Aurore Carré3

  • 1Pediatric 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.

Endocrinology and Metabolism Clinics of North America
|June 1, 2016
PubMed
Summary
This summary is machine-generated.

Thyroid dysgenesis (TD), a common cause of congenital hypothyroidism, involves complex genetics. Research is uncovering monogenetic forms and the intricate genetic factors contributing to its varied developmental anomalies.

Keywords:
Congenital hypothyroidismEpigeneticsGeneticsMendelian inheritanceThyroid developmentThyroid dysgenesisThyroid glandTranscription factors

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Area of Science:

  • Developmental Biology
  • Genetics
  • Endocrinology

Background:

  • Thyroid dysgenesis (TD) is the primary cause of congenital hypothyroidism in iodine-sufficient areas.
  • TD encompasses a range of thyroid developmental anomalies.
  • The genetic basis of TD is intricate and not fully understood.

Purpose of the Study:

  • To summarize normal thyroid development.
  • To provide an update on genes implicated in TD.
  • To explore the underlying mechanisms of TD.

Main Methods:

  • Review of current literature on thyroid development.
  • Analysis of genetic studies identifying TD-associated genes.
  • Synthesis of developmental biology findings related to TD.

Main Results:

  • Normal thyroid development involves complex, conserved steps.
  • Several monogenetic forms of TD have been identified.
  • Non-Mendelian inheritance patterns and additional genetic factors likely influence TD's phenotypic spectrum.

Conclusions:

  • Understanding TD requires integrating knowledge of normal development and genetics.
  • Advances in genetic and biological technologies are crucial for further insights into TD.
  • Further research is needed to fully elucidate the complex genetic architecture of TD.