How do you handle patients with congenital adrenal hyperplasia?

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Sample interview questions: How do you handle patients with congenital adrenal hyperplasia?

Sample answer:

  • Establishing an Accurate Diagnosis:

    • Perform a thorough physical examination, paying attention to any ambiguous genitalia, signs of virilization, or delayed puberty.
    • Order laboratory tests, including serum electrolytes, 17-hydroxyprogesterone, and ACTH levels.
    • Consider genetic testing to confirm the diagnosis.
  • Initiating Treatment:

    • Administer glucocorticoid replacement therapy to suppress ACTH production and prevent adrenal insufficiency.
    • For patients with salt-wasting CAH, provide mineralocorticoid replacement therapy as well.
    • Monitor electrolytes and adjust the dosage of replacement therapy accordingly.
  • Providing Genetic Counseling:

    • Offer genetic counseling to the patient and their family to help them understand the genetic basis of CAH, the risk of passing it on to future children, and the importance of ongoing medical care.
  • Managing Long-Term Care:

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