Congenital Adrenal Hyperplasia (CAH): Genetics and Symptoms
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Questions and Answers

What is the primary cause of Congenital Adrenal Hyperplasia (CAH)?

  • 21-hydroxylase deficiency (correct)
  • 17,20-lyase deficiency
  • 11β-hydroxylase deficiency
  • 3β-hydroxysteroid dehydrogenase deficiency

    • What is the result of androgen excess in female patients with Congenital Adrenal Hyperplasia (CAH)?

  • Hypertension
  • Growth retardation
  • Masculinization of the body (correct)
  • Feminization of the body

    • What is the treatment for Hypoaldosteronism?

  • Corticosteroid therapy
  • Replacement hormone medication (correct)
  • ACTH suppression
  • Reconstructive surgery

    • What is a major cause of Adrenal Insufficiency?

    <p>Pituitary tumor</p> Signup and view all the answers

    What is the effect of excess adrenal androgens on normal adult men?

    <p>No significant effect</p> Signup and view all the answers

    What is the primary symptom of Adrenal Insufficiency?

    <p>Fatigue</p> Signup and view all the answers

    What is the approximate incidence of Addison disease per 1 million people?

    <p>40-60 cases</p> Signup and view all the answers

    Which of the following is NOT a symptom of adrenal crisis in Addison disease?

    <p>Hyperkalemia</p> Signup and view all the answers

    What is the primary goal of treatment in primary adrenal insufficiency?

    <p>To replace the missing cortisol and aldosterone</p> Signup and view all the answers

    Which of the following is a characteristic of primary adrenal insufficiency but NOT secondary adrenal insufficiency?

    <p>Hyperpigmentation of skin</p> Signup and view all the answers

    What is the probable cause of androgen deficiency in Addison disease?

    <p>Insufficient production of DHEA</p> Signup and view all the answers

    What is the term for the congenital defect in which the adrenal glands produce excessive amounts of androgens?

    <p>Congenital adrenal hyperplasia</p> Signup and view all the answers

    What is the primary cause of Addison disease?

    <p>Atrophy or destruction of both adrenal glands</p> Signup and view all the answers

    What is the treatment for Hypoaldosteronism?

    <p>All of the above</p> Signup and view all the answers

    What is the underlying cause of Congenital adrenal hyperplasia?

    <p>21-hydroxylase deficiency</p> Signup and view all the answers

    What is the primary cause of Adrenal insufficiency?

    <p>Atrophy or destruction of both adrenal glands</p> Signup and view all the answers

    What is the symptom of Androgen excess?

    <p>Cushing’s syndrome</p> Signup and view all the answers

    What is the effect of CAH on cortisol and aldosterone production?

    <p>Lack of cortisol and aldosterone</p> Signup and view all the answers

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