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

Simple-virilizing congenital adrenal hyperplasia (CAH) is a rare disorder. The objective of this case report is to highlight the challenges in early diagnosis and the treatment of ambiguous genitalia so that a patient can be treated at an early stage and irreversible changes can be prevented. A 13-year-old child, assigned female at birth, presented with the chief complaints of primary amenorrhea. The patient also reported ambiguous genitalia, male pattern hair growth, and deepening of voice (which was progressive and first noted at six years of age). She was evaluated at six years of age but not by an expert. Ultrasound showed a normal uterus and bilateral ovaries, karyotyping XX pattern. On hormonal analysis, serum testosterone and dehydroepiandrosterone sulfate were raised but 17-hydroxyprogesterone (17-OHP) was low; this was against the diagnosis of CAH. As 17-OHP was not raised, we performed a computerized tomography scan, which showed adrenal hyperplasia. A repeat 17-OHP test showed a level of 2,000 ng/dL (>800 ng/dL is diagnostic of CAH). We highlight several challenges in the diagnosis of the simple virilizing form of CAH. The patient’s primary complaint was primary amenorrhea, she herself did not think virilization to be important. Possibly due to social and financial issues, she had not received expert opinion in early childhood. We cannot rely solely on an investigation alone but need to see the patient as a whole. With proper and timely referral and diagnosis, we can limit serious morbidity in the form of virilization as treatments to prevent it are basic.