Please confirm topic selection

Are you sure you want to trigger topic in your Anconeus AI algorithm?

Please confirm action

You are done for today with this topic.

Would you like to start learning session with this topic items scheduled for future?

Updated: Jan 4 2021

Adrenogenital Syndrome (Congenital Adrenal Hyperplasia)

  • 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
1 of 0
1 of 8
Private Note

Attach Treatment Poll
Treatment poll is required to gain more useful feedback from members.
Please enter Question Text
Please enter at least 2 unique options
Please enter at least 2 unique options
Please enter at least 2 unique options