Updated: 1/4/2021

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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(M1.EC.15.75) A 17-year-old girl is brought to the pediatrician by her father for evaluation. He is concerned that she has not undergone puberty yet, while all of her classmates at school have. The patient herself feels well overall, with no specific complaints. Examination shows vital signs of T 98.9, HR 71, and BP 145/92. The physician notes undeveloped breasts and normal external and internal female genitalia in Tanner I stage of development. Her body mass index is within normal limits, she is in the 40th percentile for height, and she is agreeable and pleasant during the interview. Which of the following additional findings is likely present in this patient?

QID: 106795
1

Aromatase enzyme deficiency

45%

(39/87)

2

Hypokalemia

29%

(25/87)

3

Increased levels of sex hormones

8%

(7/87)

4

XY karyotype

10%

(9/87)

5

Hypercortisolism

2%

(2/87)

M 2 D

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(M1.EC.13.28) A 1-year-old male is found to have high blood pressure on multiple visits to your office. On examination, the patient has normal genitalia. Further laboratory workup reveals low serum aldosterone and high serum testosterone. Which of the following is most likely to be elevated in this patient?

QID: 100329
1

17-hydroxylase

19%

(9/47)

2

21-hydroxylase

30%

(14/47)

3

11-hydroxylase

6%

(3/47)

4

5'-deiodinase

0%

(0/47)

5

11-deoxycorticosterone

43%

(20/47)

M 2 D

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(M1.EC.13.88) A 5-year-old male visits his pediatrician for a check-up. His height corresponds to the 99th percentile for his age, and pubic hair is present upon physical examination. Serum renin and potassium levels are high, as is 17-hydroxyprogesterone. Which of the following is likely deficient in this patient?

QID: 100389
1

17a-hydroxylase

7%

(3/46)

2

11ß-hydroxylase

13%

(6/46)

3

21-hydroxylase

72%

(33/46)

4

Aromatase

4%

(2/46)

5

5a-reductase

2%

(1/46)

M 1 D

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Evidence (4)
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EXPERT COMMENTS (19)
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