Congenital Adrenal Hyperplasia Flashcards
1
Q
No aldosterone Hyperkalemia Hypotension No cortisol Elevated sex hormone Virilization of girl Precocious boy
A
21 Hydroxylase deficiency
2
Q
No Aldosterone Hypokalemia Hypertension No cortisol Elevated androstenedione Virilization of girl Precocious boy
A
11 beta Hydroxylase deficiency
*Low aldosterone but excessive weak mineralocorticoid (11-deoxycorticosterone) doing mineralocorticoid work.
3
Q
17 alpha Hydroxylase deficiency levels:
BP, RENIN, Aldosterone, Cortisol, Andosterione
A
BRACA ↑BP – RENIN ↑ Aldosterone ↓ Cortisol ↓ Andosterione
**Low cortisol but excessive weak glucocorticoid (corticosterone).
4
Q
Symptoms: Hypotension Salt wasting (vomiting) Hyponatremia ↓ Na+ Hyperkalemia ↑ K+ Ambiguous genitalia in girls
A
21 Hydroxylase deficiency
5
Q
Symptoms: Hypertension Hypoaldosteronism ↓ K+ (Hypokalemia) Ambiguous genitalia in girls
A
11 beta Hydroxylase deficiency
6
Q
Symptoms: Hypertension Hyperaldosteronism ↓ K+ (Hypokalemia) Ambiguous genitalia in boys Normal Genitalia in girls After puberty, absent secondary sexual characteristics Amenorrhea in girls
A
17 alpha Hydroxylase deficiency
*In severe cases, males appear phenotypically female but lack internal female genitalia
