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A rare cause of virilisation
  1. Rebecca Poole1,
  2. Tafadzwa Makaya2
  1. 1 General Practice, East Surrey Hospital, Redhill, UK
  2. 2 Department of Paediatric Endocrinology, Oxford Children's Hospital, Oxford, UK
  1. Correspondence to Dr Rebecca Poole, FY2 in General Practice, East Surrey Hospital, Canada Avenue, Redhill RH1 5RH, UK; r.poole{at}doctors.org.uk

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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.

Questions

  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?

Answers to the questions on page 205

1. There are three main differential diagnoses: premature adrenarche, non-classic congenital adrenal hyperplasia (CAH) and virilising tumours. …

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