Home » Classic Medicine » Endocrinology » hypothyroidism—congenital—non-goitrous—1



A non-autoimmune condition (OMIM:275200) characterised by resistance to TSH, leading to increased plasma TSH and reduced thyroid hormone. It presents with a range of severity: most patients are euthyroid and asymptomatic with a normal sized thyroid gland; a subset of patients develop hypothyroidism and present with a hypoplastic thyroid.

Molecular pathology Defects of TSHR, which encodes the receptor for thyrothropin and thyrostimulin, cause hypothyroidism—congenital—non-goitrous—1.

Synonyms Congenital hypothyroidism due to TSH resistance, hypothyroidism—non-automimmune, hypothyroidism congenital—due to TSH resistance, hypothyroidism due to unresponsiveness to thyrotopin, thyroid-stimulating hormone—resistance to, thyrotropin resistance, TSH resistance 

References http://www.uniprot.org/uniprot/P16473


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