Genetic Endocrine Disorders Flashcards
1
Q
Congenital Adrenal Hyperplasia (CAH)
A
- Congenital = present at birth,
- Hyperplasia = enlargement of adrenal glands
- 1 in 12,000
- Excess of adrenal androgens and reductio of adrenal glucocorticoids => lead to some symptoms
- Autosomal recessive, most patients have different mutations on different alleles
- CAH = Umbrella term for 7 different diseases, depending on enzyme affected, different hormone imbalances
1
Q
Enzymes affected by CAH
A
- 21-hydroxylase deficiency (95%)
- 11B-hydroxylase (11BOH)
- 17a-hydroxylase (17OH)
- P450 SCC
- P450 oxidoreductase
- (StAR)
2
Q
HPA-Axis
A
Important for alleviation of stress, inflammation and salt retention
3
Q
Renin-angiotension
A
R-A & aldosterone act to maintain salt concentrations and b.p
4
Q
How are steroids synthesized
A
Steroids such as estrogen, test and cortisol derive from cholesterol
5
Q
Symptoms of CAH
A
Classic: Salt wasting (deletion), postnatal virilisation
Non-classic: Asymptomtic
No effect on intellectual ability
6
Q
Diagnosis of CAH
A
- Serum or urine testing for metabolites
- ACTH stimulation test (Cosyntropin)
7
Q
Treatment for CAH: Low glucocorticoids, low aldosterone but excess T
A
8
Q
Consequences of excess T
A
- Masculinization or Virilization: This is because the brain is organized male or female and excess T has the
ability to change the brain.
In humans: 8-24 weeks of gestation
and early postnatal life - T is
elevated in males
9
Q
CAH and Androgens
A
CAH boys and girls prefer masculine play style
10
Q
Caveats to studies
A
