Cretinism pathophysiology

Cretinism Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

The exact pathogenesis of [disease name] is not fully understood.

OR

It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].

OR

[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

OR

Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

OR

[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

OR

The progression to [disease name] usually involves the [molecular pathway].

OR

The pathophysiology of [disease/malignancy] depends on the histological subtype.

Pathophysiology

Pathogenesis

• It is thought that cretinism is caused by a congenital anomaly in the thyroid gland.
• Different mechanisms causing congenital hypothyroidism include the following:
  • Thyroid dysgenesis:
    • Thyroid dysgenesis is the most common cause of congenital hypothyroidism. It is due to the absence of the thyroid gland, ectopic growth of the gland or the thyroid gland is hypoplastic.
    • It is believed that thyroid dysgenesis is caused by a mutation in some genes responsible for thyroid formation and function. These genes include the following:
      • Mutation in the TSH receptor is responsible for the hypoplastic thyroid gland.
  • Thyroid dyshormonogenesis:
    • It is believed also that the defect in the synthesis of the thyroid hormone itself is another way of the pathogenesis of cretinism.

Genetics

Genetic importance in normal thyroid hormone secretion

• [Disease name] is transmitted in [mode of genetic transmission] pattern.
• Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
• The development of [disease name] is the result of multiple genetic mutations.
• Cretinism can occur due to genetic defects include the following:
  • Thyrotropin (TSH) resistance,
  • Iodine trapping defect,
  • Organification defect, thyroglobulin
  • Iodotyrosine deiodinase deficiency
• In a small proportion of cases of congenital hypothyroidism, the defect is due to a deficiency of thyroid stimulating hormone, either isolated or as part of congenital hypopituitarism.

Gross Pathology

• On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

• On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].