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H485

Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism. The disease is caused by a mutation in the thyroid peroxidase (TPO) gene. Inherited CHG is an autosomal recessive disorder. Thyroid peroxidase is a multi-functional enzyme required for thyroid hormone synthesis.

Clinical features

Clinical signs include delayed opening of the eyes and ear canals, poor nursing, inactivity, unresponsiveness to environmental stimuli, macroglossia and hypomyelination of the central nervous system.

Additional information

References

Pubmed ID: 23113744

Omia ID: 536

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