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Review Question - QID 210515

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QID 210515 (Type "210515" in App Search)
A newborn female infant is born to a G1P1 woman at 40 weeks gestation. There were no complications during the pregnancy and the mother was followed by an obstetrician. She took folic acid and iron during the pregnancy and did not use any illicit substances. The newborn's temperature is 99.5°F (37.5°C), blood pressure is 38/18 mmHg, pulse is 200/min, respirations are 47/min, and oxygen saturation is 98% on room air. Physical exam reveals an arousable infant with ambiguous genitalia. Basic laboratory values are ordered. Which of the following laboratory value changes in Figure A would most likely be found in this patient?
  • A

A

2%

1/47

B

2%

1/47

C

2%

1/47

D

17%

8/47

E

70%

33/47

  • A

Select Answer to see Preferred Response

This patient is presenting with ambiguous genitalia and hypotension for which the most common cause is 21-hydroxylase (21-OH) deficiency. 21-OH deficiency is associated with decreased aldosterone and cortisol and increased androgens and potassium.

21-OH deficiency is the most common cause of congenital adrenal hyperplasia. The absence of the enzyme 21-OH blocks the production of mineralocorticoids (aldosterone) and cortisol. As a result, patients will lose sodium and water in the urine causing hypotension. In addition, aldosterone typically causes the principal cells of the kidney to waste potassium. Without aldosterone hyperkalemia is often present. Finally, the decreased activity of 21-OH causes a shunt of the substrate toward 17-hydroxyprogesterone production and increases the androgen level. Treatment is with metabolite repletion and hormone supplementation.

Parsa and New review the evidence regarding the diagnosis and treatment of 21-OH deficiency. They discuss how this disease is inherited in an autosomal recessive manner. They recommend treating patients with metabolite repletion and hormone supplementation.

Figure A is a table demonstrating the changes that would occur in 21-OH deficiency (E), 11-OH deficiency (D), and 17-OH deficiency (A).

Incorrect Answers:
Answer 1: A in the table represents 17-OH deficiency with an increased aldosterone level and a decreased cortisol, androgen, and potassium levels. Treatment is with metabolite repletion and hormone supplementation.

Answer 2: B in the table demonstrates an aldosterone-producing adenoma with an increased aldosterone level and a decreased potassium. Treatment is with resection of the adenoma.

Answer 3: C in the table does not correspond to any common pathology.

Answer 4: D in the table corresponds to 11-OH deficiency with a decreased aldosterone, cortisol, and potassium and increased androgen level. The decreased aldosterone level is secondary to hypertension from increased 11-deoxycorticosterone. Treatment is with metabolite repletion and hormone supplementation.

Bullet Summary:
21-OH deficiency causes decreased aldosterone and cortisol levels and increased androgen and potassium levels.

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