Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
TRH deficiency is an autosomal recessive disorder caused by mutations of the TRH gene.
Central hypothyroidism
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Central hypothyroidism and testicular enlargement
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Generalized thyrotropin-releasing hormone resistance
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Thyrotropin-releasing hormone deficiency
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TRH
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| 1. |
Mitnick M et al. (1972) Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase". 
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| 2. |
Foresti V et al. (1985) Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes?
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| 3. |
Katakami H et al. (1984) Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency.
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| 4. |
Niimi H et al. (1982) Congenital isolated thyrotrophin releasing hormone deficiency.
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| 5. |
OMIM.ORG article Omim 275120
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