Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Central hypothyroidism

Congenital central hypothyroidism is caused by mutations in several genes and is characterized by a missing TSH elevation.

Systematic

Hypothyroidism
Bamforth-Lazarus syndrome
Central hypothyroidism
Central hypothyroidism and testicular enlargement
IGSF1
Generalized thyrotropin-releasing hormone resistance
TRHR
Thyrotropin-releasing hormone deficiency
TRH
Choreoathetosis with hypothyroidism and neonatal respiratory distress
Congenital nongoitrous hypothyroidism
Neonatal diabetes mellitus with congenital hypothyroidism
Thyroid dyshormonogenesis

References:

1.

Yamada M et. al. (1993) Assignment of human thyrotropin-releasing hormone (TRH) receptor gene to chromosome 8.

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2.

Matre V et. al. (1993) Molecular cloning of a functional human thyrotropin-releasing hormone receptor.

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3.

Bonomi M et. al. (2009) A family with complete resistance to thyrotropin-releasing hormone.

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4.

Mitnick M et. al. (1972) Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase".

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5.

Foresti V et. al. (1985) Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes?

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6.

Katakami H et. al. (1984) Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency.

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7.

Niimi H et. al. (1982) Congenital isolated thyrotrophin releasing hormone deficiency.

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Update: Sept. 26, 2018