Hypothyroidism Due To Tsh Receptor Mutations

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

TSHR, IFIH1, CEP128, PTH, GNAS, SLC5A5, TG, DUOX2, CHNG3

Drugs

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A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Epidemiology

Resistance to TSH occurs in about 5% of cases of permanent congenital hypothyroidism.

Clinical description

Clinical manifestations are those of other forms of congenital hypothyroidism (CH; see this term). Goiter is always absent.

Etiology

Mutations in the TSH receptor gene (TSHR; 14q31) result in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia (see this term).