A 2-week-old with jaundice and poor feeding is suspected to have congenital adrenal hyperplasia. What would be prioritized in management?

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In the context of a 2-week-old presenting with jaundice and poor feeding, suspected to have congenital adrenal hyperplasia (CAH), the most critical management step is the initiation of hormonal therapy. CAH is often due to an enzyme deficiency that affects cortisol production, leading to an accumulation of steroid precursors and resulting in a lack of critical hormones.

Immediate hormonal therapy is essential to address the adrenal insufficiency and to help restore the balance of electrolytes and hormones. Hormonal replacement typically includes glucocorticoids, which can prevent adrenal crisis and reduce the risks associated with atypical genitalia and metabolic complications, such as hyperkalemia. Timely steroid administration is vital for managing potential complications that can arise from the adrenal insufficiency in infants.

While referral for genetic counseling, routine follow-ups, or surgery might be relevant in the overall management of CAH or other conditions, these steps do not address the immediate physiological needs of a newborn experiencing potentially life-threatening hormonal imbalances. Thus, the priority is to ensure the infant receives the necessary hormonal therapy promptly to stabilize their condition.

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