Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report

This case report discusses the diagnostic challenges of simple-virilizing congenital adrenal hyperplasia (CAH) in a 13-year-old patient assigned female at birth, who presented with primary amenorrhea and signs of virilization such as ambiguous genitalia, male pattern hair growth, and a deepening voice. Initial evaluations, including ultrasound and karyotyping, did not lead to a diagnosis as the patient's 17-hydroxyprogesterone (17-OHP) levels were low, contrary to typical CAH findings. However, a CT scan revealed adrenal hyperplasia and a repeated 17-OHP test showed levels indicative of CAH (>800 ng/dL). The case highlights the importance of comprehensive evaluation and the need for expert consultation in early childhood to prevent irreversible virilization and serious morbidity, as the patient had not considered her virilization symptoms significant and may have faced social and financial barriers to accessing appropriate care.