Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyrotropin-releasing hormone deficiency

TRH deficiency is an autosomal recessive disorder caused by mutations of the TRH gene.

Systematic

Central hypothyroidism
Central hypothyroidism and testicular enlargement
Generalized thyrotropin-releasing hormone resistance
Thyrotropin-releasing hormone deficiency
TRH

References:

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 [^]
Update: April 29, 2019