Adrenal Flashcards
(13 cards)
Congenital adrenal hyperplasia
CAH
Most common cause of adrenal insufficiency in infants
Shocks/septic picture
Females: ruggated labia, clitoral hypertrophy
Males: excessive scrotal pigmentation
Due to increases androgen levels
Autosomal recessive
There is a late form CAH too. Growth delay.
Most common CAH enzyme deficiency
21-hydroxylase deficiency
21 hydroxylase produces aldosterone and cortisol normally
High levels of 17-hydroxyprogesterone (lab) when 21 hydroxylase is deficient (precursor)
-elevated testosterone
Family member taking testosterone gel for hypergonadism, cross contamination in patient
Checked for on PKU. If positive, repeat newborn screen. If positive, check BMP and urinary sodium/potassium excretion.
Prenatal screening: genetic test of fetal cells. Not in amniotic fluid.
The other type of CAH
Salt wasting
Hyponatremia
Hyperkalemia
CAH treatment
Glucocorticoid: hydrocortisone
In high doses, has a mineralocorticoid affect too.
Glucocorticoid: cortisol (regulates sugar and response to stress)
Mineralocorticoid: aldosterone
Adrenal crisis
Medical emergency Shock Death Usually primary AI due to mineralocorticoid issues. Hypoglycemia Hyponatremia Hyperkalemia High ADH (appropriate) Abdominal pain, vomiting, weakness, fever, hypertension, AMS, anorexia, lethargy
Adrenal crisis treatment
20 cc/kg D5NS (no K) over 1 he
Then add IV hydrocortisone
Then add glucocorticoid replacement
Primary adrenal deficiency
A.k.a. Addison disease
Autoimmune, infection, idiopathic
Elevated ACTH levels (appropriate brain response)
–> Hyperpigmentation (stimulates melanin production)
Cosyntropin (synthetic ACTH) stimulation test aka ACTH Stimulation test. No increase in cortisol
Weight loss, fatigue, salt wasting, hyperkalemia, hyponatremia
Primary adrenal deficiency treatment
Fludrocortisone: mineralocorticoid replacement
Hydrocortisone: glucocorticoid replacement
Secondary adrenal deficiency
Adrenal glands normal
Problem with pituitary or hypothalamus
Low ACTH levels
ACTH stimulation test: rise in cortisol levels
Low CRH = problem with hypothalamus
Midline defect: cleft lip/palate (pituitary issue) Normal aldosterone: no salt wasting, hyponatremia, hyperkalemia. No hyperpigmentation (low ACTH)
Cushing syndrome versus Cushing disease
Syndrome: glucocorticoid excess of any origin
Disease: excess corticotropin (ACTH) by pituitary gland –> excess cortisol production by adrenal gland
Cushing features
Acne purple striae hirsutism Virilization buffalo hump increased BMI, GROWTH ARREST delayed bone age
most common cause: chronic use of topical, inhaled or oral corticosteroids
-Tx: stop meds
Infants: McCune Albright syndrome
Gold standard test for Cushing’s
Highest sensitivity test
The other test
24-hour urinary free cortisol excretion
Midnight sleeping plasma cortisol level
Dexamethasone suppression test
- normal would be low cortisol
- abnormal would be elevated cortisol
Lab finding for Cushing’s syndrome from adrenal tumor
Undetectable morning corticotropin (ACTH) level
Next step: adrenal CT/MRI
If high corticotropin level, then it’s from the pituitary. Next step is pituitary MRI
