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

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