Updated: 10/31/2018

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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Questions (7)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
Calculator

(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? Review Topic

QID: 100329
1

17-hydroxylase

0%

(0/3)

2

21-hydroxylase

33%

(1/3)

3

11-hydroxylase

0%

(0/3)

4

5'-deiodinase

0%

(0/3)

5

11-deoxycorticosterone

67%

(2/3)

M1

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PREFERRED RESPONSE 5
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(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 137/92. 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? Review Topic

QID: 106795
1

Aromatase enzyme deficiency

45%

(30/67)

2

Hypokalemia

30%

(20/67)

3

Increased levels of sex hormones

9%

(6/67)

4

XY karyotype

7%

(5/67)

5

Hypercortisolism

3%

(2/67)

M1

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(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? Review Topic

QID: 100389
1

17a-hydroxylase

6%

(1/18)

2

11ß-hydroxylase

11%

(2/18)

3

21-hydroxylase

67%

(12/18)

4

Aromatase

11%

(2/18)

5

5a-reductase

6%

(1/18)

M1

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