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Updated: Jan 4 2021

Adrenogenital Syndrome (Congenital Adrenal Hyperplasia)

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  • 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
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