Central congenital hypothyroidism

rare

Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.

Identifiers: MONDO:0016410 Orphanet:226298
Part of: Permanent congenital hypothyroidism
Also known as: central hypothyroidism · hypothalamic-pituitary hypothyroidism · secondary hypothyroidism · thyroid stimulating hormone deficiency · thyrotropin deficiency

Subtypes

All diseases Rare only

Disease	ID	Genes
X-linked central congenital hypothyroidism with late-onset testicular enlargement	MONDO:0010475	IGSF1
Hypothyroidism due to deficient transcription factors involved in pituitary development or function	MONDO:0016411
Hypothyroidism, congenital, nongoitrous, 7	MONDO:0032819	TRHR
Isolated thyroid-stimulating hormone deficiency	MONDO:0010139	TSHB
Isolated thyrotropin-releasing hormone deficiency	MONDO:0010140

Rare disease

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