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Central congenital hypothyroidism
rareCentral 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
- Also known as
- central hypothyroidism · hypothalamic-pituitary hypothyroidism · secondary hypothyroidism · thyroid stimulating hormone deficiency · thyrotropin deficiency
Subtypes
Disease
- 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
Projects
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