Analytical Case Study on Early Diagnostic Markers and Hormonal Management in a Neonate with Classical Congenital Adrenal Hyperplasia (CAH)
Keywords:
Congenital adrenal hyperplasia, 21-hydroxylase deficiency, neonate, ambiguous genitalia, hormone therapyAbstract
Congenital adrenal hyperplasia (CAH), primarily due to 21-hydroxylase deficiency, can present at birth with ambiguous genitalia and adrenal insufficiency. We describe a term female neonate born via cesarean section who presented with ambiguous genitalia and was later diagnosed with classical CAH. Investigations revealed elevated 17-hydroxyprogesterone and low cortisol levels. Genetic analysis confirmed CYP21A2 mutation. Hormonal therapy with hydrocortisone and fludrocortisone was initiated early. Electrolyte imbalances were corrected. The child remained stable with regular follow-up and dosage adjustments. Early identification and initiation of hormone therapy in neonates with CAH is crucial to prevent adrenal crises and optimize long-term outcomes.
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