Epidemiology
What is the Incidence of CAH
1 in 10000 to 15000
Identify 2 symptoms of an adrenal crisis.
Any of the following - diarrhoea/vomiting, dehydration, confusion, seizures, coma.
What hormone is elevated in CAH due to a 21-hydroxylase deficiency and is a key diagnostic marker
17-hydroxyprogesterone (17-OHP)
What are population risk factors for Classic CAH
Native Americans and Yupik people
Low aldosterone levels can lead to disrupted levels of 2 main electrolytes. Identify these 2 electrolytes and explain whether CAH leads to high/low levels.
Sodium - low, Potassium - high.
This hormone is low in CAH, causing increased ACTH secretion due to loss of negative feedback
Cortisol
What are genetic risk factors for CAH
Explain the typical physical growth/development patterns of a (46, XX) individual with classic CAH. Refer to both bones and genitalia in this answer.
Rapid growth/development of bones during early life, but early fusion of growth plates leads to a shorter adult height.
External male genitalia (due to androgens), but normally developed uterus/ovaries (due to no AMH and persistence
This test shows hyponatremia, hyperkalemia, metabolic acidosis and sometimes hypercholeremia
Serum electrolyte test (UEC)
This special test involves administering synthetic ACTH and measuring the rise in 17-OHP levels
ACTH stimulation test (synacthen test)
This genetic test identifies mutations in the gene responsible for 21-hydroxylase enzyme production
CYP21A2 PCR gene test