congenital nongoitrous hypothyroidism 7

Term ID

DOID:0111836

Synonyms

• central hypothyroidism due to TRH receptor deficiency
• CHNG7
• resistance to thyrotropin-releasing hormone syndrome
• TRH resistance syndrome

Definition

A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. https://www.ncbi.nlm.nih.gov/pubmed/9141550

References

• MIM:618573
• ORDO:99832

Ontology

Human Disease   ( DOID:0111836 )