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GTR Home > Conditions/Phenotypes > Isolated thyroid-stimulating hormone deficiency

Isolated thyroid-stimulating hormone deficiency

Synonyms
Hypothryoidism, congenital, nongoitrous 4; Pituitary cretinism; THYROID-STIMULATING HORMONE DEFICIENCY; TSH deficiency; Thyroid-stimulating hormone, deficiency of; Thyrotropin deficiency, isolated
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. [from ORDO]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: TSH-B, TSH-BETA, TSHB
    Summary: thyroid stimulating hormone subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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