Congenital Hypothyroidism Flashcards
The butterfly-shaped organ that produces thyroid hormones.
Thyroid Gland
What genetic trait is Congenital Hypothyroidism?
Autosomal Recessive
What are the functions of Thyroid Gland?
• Normal brain development
• Development of muscles and bones
• Regulation of body temperature
• Maintain heart rate
It determines whether the thyroid is performing properly.
Free thyroid hormone (FT4)
What are the 2 types of Congenital Hypothyroidism?
• Thyroid Dysgenesis
• Thyroid Dyshormonogenesis
What type of congenital hypothyroidism when the thyroid gland fails to develop or function properly?
Thyroid Dysgenesis
What type of Congenital Hypothyroidism results from mutation in several genes that are involved in the production of thyroid hormones?
Thyroid Dyshormonogenesis
What are the 2 genes of Thyroid Dysgenesis?
• Paired box gene 8 (PAX8) found in chromosome 15
• Thyroid stimulating hormone receptor (TSHR) found in chromosome 14
What are the genes involved in Thyroid Dyshormonogenesis?
• 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
What is the treatment for Congenital Hypothyroidism?
L-thyroxine tablet
What does the L-thyroxine tablet do?
It provides more thyroid hormone