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12 results
  1. NKX2-1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK185066
    ... Congenital hypothyroidism 12 Congenital hypothyroidism similar to idiopathic congenital hypothyroidism Thyroid dysgenesis (aplasia, hypoplasia, or ectopic thyroid gland) Inborn errors ...
  2. Congenital hypothyroidism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/congenital-hypothyroidism
    ... The cause of the most common type of congenital hypothyroidism, thyroid dysgenesis, is usually unknown. Studies suggest that 2 to ... PubMed References Grasberger ... molecular causes of thyroid dysgenesis: a systematic review. J Endocrinol Invest. 2013 Sep; ...
  3. PAX8 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pax8
    ... M, Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May;19(1):83-6. ... Castanet M, Polak M. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. ...
  4. SLC26A4 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc26a4
    ... Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. J Clin Endocrinol Metab. 2014 Jan;99(1): ...
  5. TSHR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tshr
    ... the gland is smaller than normal. Cases of congenital hypothyroidism caused by TSHR gene mutations are sometimes classified as thyroid dysgenesis because development of the thyroid gland is impaired. ...
  6. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... of these important hormones.</html:p><html:p >Congenital hypothyroidism occurs ... as thyroid dysgenesis. In the remainder of cases, a normal-sized ...
  7. PROP1-Related Combined Pituitary Hormone Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1347
    ... hernia, excessive sleeping, and hypotonia Note: Infants with congenital hypothyroidism may show no signs in the first month ... of TRH Note: All newborn screening programs for congenital hypothyroidism screen for elevated TSH. Persons with central hypothyroidism ...
  8. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... respiratory distress</other_name><other_name >Chreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction</other_name></other_ ...
  9. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... S, Laron Z. Hyperprolactinaemia in a boy with hypothyroidism due to an ectopic thyroid. Acta Paediatr Belg. 1978 Jul-Sep; 31 (3): ... A, Tibrewal SR, Thapa R. PHACES syndrome with congenital hypothyroidism. Indian Pediatr. 2007 Feb; 44 (2):144–7. ...
  10. xmlmplus_topics_2024-05-04.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-05-04.xml
    ... li>Thyroiditis, inflammation of the thyroid</li> <li>Congenital hypothyroidism, hypothyroidism that is present at birth</li> <li> ...
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