Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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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8.

Orphanet article

Orphanet ID 99832 external link
Update: Aug. 14, 2020
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