questions 5

Adrenogenital Syndrome (Congenital Adrenal Hyperplasia)

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Topic updated on 04/12/17 6:09pm

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
11-Hydroxylase Deficiency
  • Presentation
    • ↑ 17-ketosteroids
      • ambiguity of female genitalia at birth 
      • precocious puberty in both sexes
    • ↑ 17-hydroxyprogesterone
    • ↑ 17-hydroxycorticoids
    • ↑ mineralocorticoids
      • hypernatremic hypertension
        • ↑ 11-deoxycorticosterone (a mineralocorticoid)
        • ↓ aldosterone
    • ↑ ACTH
      • diffuse skin pigmentation
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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Qbank (3 Questions)

TAG
(M1.EC.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? Topic Review Topic

1. 17-hydroxylase
2. 21-hydroxylase
3. 11-hydroxylase
4. 5'-deiodinase
5. 11-deoxycorticosterone

PREFERRED RESPONSE ▶
TAG
(M1.EC.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 137/82. The physician notes undeveloped breasts and normal external and internal female genitalia in Tanner I stage of development. Which of the following additional findings could be present in this patient? Topic Review Topic

1. Aromatase enzyme deficiency
2. Hypokalemia
3. Increased levels of sex hormones
4. XY karyotype
5. Hypercortisolism

PREFERRED RESPONSE ▶
TAG
(M1.EC.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? Topic Review Topic

1. 17a-hydroxylase
2. 11ß-hydroxylase
3. 21-hydroxylase
4. Aromatase
5. 5a-reductase

PREFERRED RESPONSE ▶
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