A rare cause of virilisation

A previously well 2½-year-old girl presented to primary care with a 4-month history of greasy hair, acne, increased hair growth and weight gain. Within the last month, her acne had worsened, and her appetite had increased. She complained of abdominal pain and worryingly developed pubic hair. On examination, she had flushed cheeks with moon facies. Weight was on 91st centile, yet height, 2nd–9th centile. Abdominal examination and blood pressure were unremarkable, but there were signs of virilisation—pubic hair stage 2; enlarged, reddened labia majora and clitoris; and acne over the nose, cheeks and scalp line. She was urgently referred to secondary care (figure 1). Figure 1 Appearance at presentation. 1. What is the differential diagnosis of female childhood virilisation? 2. What are the key initial investigations for the probable diagnosis? 3. How should these patients be managed? 1. There are three main differential diagnoses: premature adrenarche, non-classic congenital adrenal hyperplasia (CAH) and virilising tumours . …