Document Detail

The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.
MedLine Citation:
PMID:  8981017     Owner:  NLM     Status:  MEDLINE    
According to the central role of the TSH receptor for thyroid function and growth the gene for the TSH receptor is a possible candidate gene for mutations which result in an impairment of thyroid growth and function (Vassart and Dumont 1992). First evidence for the role of TSH receptor defects in the pathogenesis of congenital thyroid disorders was elucidated by the presence of activating germline mutations leading to congenital hyperthyroidism (Duprez et al., 1994). After the finding of partial loss-of-function mutations leading to hyperthyrotropinemia (Sunthornthepvarakul et al., 1995) it was speculated that a more severe phenotype with hypothyroidism and hypoplasia of the gland (thyroid dysgenesis) would be the result, if complete loss-of-function mutations like the isoleucine167 to asparagine mutation would occur in a homozygote or compound heterozygote state. The screening of TSHR gene mutations by SSCP in a well defined cohort of 100 children with congenital hypothyroidism (CH), diagnosed and followed since 1978 in the Childrens Hospital of Berlin, revealed one patient with hypoplasia of the thyroid to be positive for two compound heterozygote inactivating mutations of the TSHR gene, indicating thereby that the clinical approach to define phenotypes of interest could be helpful to understand the fundamental process of thyroid development.
H Krude; H Biebermann; W Göpel; A Grüters
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association     Volume:  104 Suppl 4     ISSN:  0947-7349     ISO Abbreviation:  Exp. Clin. Endocrinol. Diabetes     Publication Date:  1996  
Date Detail:
Created Date:  1997-03-20     Completed Date:  1997-03-20     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  9505926     Medline TA:  Exp Clin Endocrinol Diabetes     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  117-20     Citation Subset:  IM    
Department of Pediatrics, Humboldt University Berlin, Germany.
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MeSH Terms
Congenital Hypothyroidism*
Hypothyroidism / genetics*
Polymorphism, Single-Stranded Conformational
Receptors, Thyrotropin / genetics*
Thyroid Gland / abnormalities*
Reg. No./Substance:
0/Receptors, Thyrotropin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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