Which of the following is the most appropriate management plan for a 24-hour-old neonate with ambiguous genitalia, high 17-hydroxyprogesterone, hyponatremia, hyperkalemia, low bica... Which of the following is the most appropriate management plan for a 24-hour-old neonate with ambiguous genitalia, high 17-hydroxyprogesterone, hyponatremia, hyperkalemia, low bicarbonate, and low glucose?
Understand the Problem
The question describes a 24-hour-old neonate with ambiguous genitalia and abnormal lab results, specifically a high 17-hydroxyprogesterone level, hyponatremia, hyperkalemia, low bicarbonate and low glucose levels. The question asks for the correct management of this case, suggesting congenital adrenal hyperplasia (CAH). The correct management involves addressing the electrolyte imbalances (sodium and potassium), hypoglycemia, and hormonal deficiencies with hydrocortisone and saline bolus and glucose infusion.
Answer
Stabilization with treatment for hypoglycemia, hyperkalemia, and hyponatremia, endocrine evaluation for CAH, and surgical evaluation if needed.
The most appropriate management plan should include immediate stabilization with treatment for hypoglycemia, hyperkalemia, and hyponatremia, followed by a comprehensive endocrine evaluation for congenital adrenal hyperplasia (CAH), likely 21-hydroxylase deficiency, given the high 17-hydroxyprogesterone level and ambiguous genitalia. Surgical evaluation may be needed.
Answer for screen readers
The most appropriate management plan should include immediate stabilization with treatment for hypoglycemia, hyperkalemia, and hyponatremia, followed by a comprehensive endocrine evaluation for congenital adrenal hyperplasia (CAH), likely 21-hydroxylase deficiency, given the high 17-hydroxyprogesterone level and ambiguous genitalia. Surgical evaluation may be needed.
More Information
The constellation of findings (ambiguous genitalia, high 17-hydroxyprogesterone, hyponatremia, hyperkalemia, low bicarbonate, and hypoglycemia) strongly suggests congenital adrenal hyperplasia (CAH), most commonly due to 21-hydroxylase deficiency. The ambiguous genitalia warrants surgical evaluation if needed.
Tips
A common mistake is to focus solely on one aspect of the presentation (e.g., ambiguous genitalia) without considering the systemic metabolic derangements. All the abnormalities should be handled immediately.
Sources
- 21-Hydroxylase Deficiency - StatPearls - NCBI Bookshelf - ncbi.nlm.nih.gov
- Term Infant With Ambiguous Genitalia - AAP Publications - publications.aap.org
- Congenital Adrenal Hyperplasia Treatment & Management - emedicine.medscape.com
AI-generated content may contain errors. Please verify critical information
