|
Introduction
  • Adrenal enzyme deficiency resulting in increase in products proximally and decrease in products distally
    • results in hyperplasia because there is an inability to produce the final adrenal end products (e.g. cortisol) so the pituitary stimulation is not shut off (e.g. ACTH)
  • There are several types
    • 21-hydroxylase deficiency 
    • 11-hydroxylase deficiency
    • 17-hydroxylase deficiency
  • Presentation
    • depends on the location of the enzyme block
    • 17-OH corticoids include 11-deoxycortisol and cortisone
    • 17-ketosteroids include DHEA and androstenedione
  • Treatment
    • glucocorticoids
    • mineralocorticoids (if deficient)
    • sex hormones (if deficient at time of puberty)
21-Hydroxylase Deficiency
  • Most common type
  • Presentation
    • ↑ 17-ketosteroids 
      • has weak androgen activity
      • results in
        • ambiguity of female genitalia at birth
        • precocious puberty in both sexes  
    • ↑ 17-hydroxyprogesterone
    • ↓ 17-hydroxycorticoids
    • ↓ mineralocorticoids
      • hyponatremic hypotension
    • ↑ ACTH
      • diffuse skin pigmentation
11β-Hydroxylase Deficiency
  • Clinical definition
    • a form of congenital adrenal hyperplasia (CAH) secondary to 11β-hydroxylase deficiency
  • Epidemiology
    • incidence
      • 1 in 100,000 live births
    • demographic
      • typically in Jewish and Moroccan ancestry
  • Pathogenesis
    • deficiency in 11β-hydroxylase prevents the conversion of
      • 11-deoxycortisol to cortisol
      • 11-deoxycorticosterone to corticosterone 
    • decreased cortisol levels leads to increased synthesis of ACTH in the pituitary which results in
      • increased levels of 11-deoxycortisol and 11-deoxycorticosterone
        • and therefore decreased aldosterone and cortisol levels
      • increased sex steroid synthesis
      • adrenocortical hyperplasia
  • Presentation
    • ambiguous female genitalia at birth
      • e.g., clitoral enlargement and labioscrotal fusion
    • hypertension and hypokalemia
      • secondary to increased 11-deoxycorticosterone
    • if not diagnosed at birth
      • signs of premature adrenarche
        • e.g., body odor and axillary and pubic hair growth
17-Hydroxylase Deficiency
  • Presentation
    • ↓ 17-ketosteroids
      • ambiguity of male genitalia at birth
      • puberty delay in both sexes
    • ↓ 17-hydroxyprogesterone
    • ↓ 17-hydroxycorticoids
    • ↑ mineralocorticoids
      • hypernatremic hypokalemic hypertension
    • ↑ ACTH
      • diffuse skin pigmentation


 

Please rate topic.

Average 4.8 of 4 Ratings

Questions (5)
EVIDENCE & REFERENCES (5)
VIDEOS (1)
Topic COMMENTS (14)
Private Note