Congenital Hypothyroidism Flashcards

1
Q

The butterfly-shaped organ that produces thyroid hormones.

A

Thyroid Gland

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2
Q

What genetic trait is Congenital Hypothyroidism?

A

Autosomal Recessive

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3
Q

What are the functions of Thyroid Gland?

A

• Normal brain development
• Development of muscles and bones
• Regulation of body temperature
• Maintain heart rate

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4
Q

It determines whether the thyroid is performing properly.

A

Free thyroid hormone (FT4)

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5
Q

What are the 2 types of Congenital Hypothyroidism?

A

• Thyroid Dysgenesis
• Thyroid Dyshormonogenesis

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6
Q

What type of congenital hypothyroidism when the thyroid gland fails to develop or function properly?

A

Thyroid Dysgenesis

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7
Q

What type of Congenital Hypothyroidism results from mutation in several genes that are involved in the production of thyroid hormones?

A

Thyroid Dyshormonogenesis

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8
Q

What are the 2 genes of Thyroid Dysgenesis?

A

• Paired box gene 8 (PAX8) found in chromosome 15
• Thyroid stimulating hormone receptor (TSHR) found in chromosome 14

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9
Q

What are the genes involved in Thyroid Dyshormonogenesis?

A

• Dual oxidase 2 (DUOX2) found in chromosome 15
• Solute Carrier Family 5 Member (SLC5A5) found in chromosome 19
• Thyroglobulin (TG) found in chromosome 8
• Thyroid peroxidase (TPO) found in chromosome 2

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10
Q

What is the treatment for Congenital Hypothyroidism?

A

L-thyroxine tablet

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11
Q

What does the L-thyroxine tablet do?

A

It provides more thyroid hormone

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