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Objective: Congenital adrenal hyperplasia (CAH) is a relatively rare disorder. This case report aims to highlight the diagnostic challenges faced by clinicians when typical characteristics of the disease are not fully evident. Case: The patient, a 2-month-old infant, presented at the emergency room with vomiting, diarrhea, dehydration, and lethargy. Physical examination revealed mild clitoral hypertrophy. Laboratory tests showed sodium levels at 121 mEq/L and potassium at 5.8 mEq/L, without hyperpigmentation or genital ambiguity. CAH was suspected. Due to resource constraints, 17-hydroxyprogesterone levels could not be measured. Treatment was initiated with oral prednisone (1 mg) and sodium chloride supplementation. One month later, after another hospital discontinued the treatment, the patient was readmitted with vomiting, dehydration, hyponatremia, and hyperkalemia, but still showed no significant clitoral enlargement or hyperpigmentation. The patient was stabilized and discharged after resuming treatment. Subsequent consultations revealed poor weight and height gain. At one year of age, the mother reported clitoral enlargement and morning erections. Treatment with fludrocortisone and oral hydrocortisone led to significant improvement. A genetic study confirmed a CYP21A2 gene mutation. Conclusion: This case underscores the diagnostic complexity of CAH in patients who do not initially exhibit typical virilization. It also emphasizes the importance of clinical suspicion and tailored treatment in resource-limited settings.
Espinoza et al. (Mon,) studied this question.