Lecture 35-Adrenal Case Flashcards
1
Q
What are the 3 types of 21-hydroxylase deficiencies?
A
- salt losing
- non-classical adrenal hyperplasia
- virilization
2
Q
Symptoms of CAH (21hydroxylase deficiency) can best be summed up as ______(3)
A
- fewer sexual experiences with men
- more cross gender role behavior
- genital ambiguity
3
Q
NCAH in females symptoms (4)
A
- early pubarche or sexual precocity
- hirsutism
- menstrual irregularities
- no sex at all
4
Q
Male symptoms of CAH (4)
A
- failure to thrive
- hypernutremia
- hyperkalemia
- those not diagnosed at screening will show early virilization at 2-4 years
5
Q
What are 2 telling indicators of CYP21A2?
A
- high 17OH progesterone
- ambiguous genetalia
6
Q
CYP21A2 results in ______ (3)
A
- poor cardiovascular function (decreased GFR, high AVP secretion, poor vascular response to catecholamines)
- potentially masses in testes
7
Q
CYP21A2 treatment (3)
A
- oral hydrocortisone
- fludrocortisone
- NaCl
8
Q
What are the treatment goals during adrenal crisis? (4)
A
- correct volume
- correct hypoglycemia
- correct hyperkalemia
- give stress levels of steroids
9
Q
CYP21A is generally characterized by what symptoms in females (4)?
A
- early pubarche
- acne
- hirsutism
- menstrual irregularities
10
Q
Men with CYP21A (NCAH) often have _____ (1)
A
testicular adrenal rest tissue
11
Q
How is CYP21A treated?
A
Dexamethasone
12
Q
How is CYP21A caused genetically?
A
- microconversion between the part of the pseudogene with deletions and functional gene
- loss of enzymatic activity
- in most patients (75%)
13
Q
CYP11B1 treatment
A
GCCs
