6533b857fe1ef96bd12b390d

RESEARCH PRODUCT

Developmental Abnormalities of the Thyroid

Joachim PohlenzGuy Van Vliet

subject

endocrine systemmedicine.medical_specialtyGoiterendocrine system diseasesThyroidThyroid Transcription Factor 1BiologyGene mutationmedicine.diseaseThyroid dysgenesisCongenital hypothyroidismThyroid dyshormonogenesismedicine.anatomical_structureEndocrinologyInternal medicinemedicinePAX8

description

Publisher Summary This chapter explores the abnormalities in the development of the thyroid gland during organogenesis referred to as thyroid dysgenesis. Permanent primary congenital hypothyroidism (CH) is mentioned to be the most common congenital endocrine disorder as estimated from systematic biochemical screening of newborns. The functional disorders of the thyroid gland are known as thyroid dyshormonogenesis and this disorder is typically inherited in an autosomal recessive manner and common in populations with a high degree of consanguinity. It briefly reviews the single gene disorders that cause CH from thyroid dysgenesis, and mutations that activate the thyrotropin receptor (TSH) receptor and one of its clinical presentations is congenital hyperthyroid goiter. An overview of the mutations in genes that impact thyroid development is given and includes TSH receptor gene mutations, PAX8 (Paired box gene 8 A) gene mutations and TTF1 (Thyroid transcription factor 1) gene mutation among others. The various syndromes associated with CH from thyroid dysgenesis are trisomy 21, Di George syndrome and Williams syndrome.

yearjournalcountryeditionlanguage
2010-01-01
https://doi.org/10.1016/b978-0-12-374430-2.00009-2