Congenital Adrenal Hyperplasia Flashcards
Where is the Adrenal Gland located?
it is located in the top of the kidneys
What genetic trait is Congenital Adrenal Hyperplasia?
Autosomal Recessive
What are the hormones produced by Adrenal Glands?
• Epinephrine or Adrenaline
• Cortisol
• Aldosterone
What is the gene defect of Congenital Adrenal Hyperplasia?
21-hydroxylase
How does 21-hydroxylase do?
It produces excess in androgens (male sex hormones)
It is a gene that provides instruction for making an enzyme called 21-hydroxylase?
CYP21A2 gene | Cytochrome P450 Family 21 Subfamily A Member 2 | Chromosome 6
Types of 21-hydroxylase deficiency, that CYP21A2 mutation that results in a completely non-functional enzyme?
Type 1 | Salt wasting: Most severe
Types of 21-hyrdoxylase deficiency, that CYP21A2 gene mutations that allow the production of low levels of functional enzyme?
Type II | Simple virilizing
Types of 21-hydroxylase deficiency, that CYP21A2 mutations that result in the production of reduced amounts of the enzyme or the more enzyme produced compared to the other types?
Type III | Non-classic / Late onset
What is the treatment for Congenital Adrenal Hyperplasia?
Hormone replacement and surgery
What chromosome does CYP21A2 gene find?
Chromosome 6
