Three-week-old baby referred to the paediatric endocrine clinic from a general paediatrician with ambiguous genitalia, accompanied by very anxious and upset parents.
Results of Investigations
Prader V on Prader virilisation scale (marked virilisation of the external genitalia; see here)
Increased urinary steroid profile
46, XX Karyotype
17-OHP – 101.9 nmol/L (normal range 0–5 nmol/L)
Ultrasound scan – Normal bladder and kidneys, ovaries present
This baby required intensive medical and psychological management, as well as high-level nursing intervention. The parents remained anxious, including the father who was very angry as he felt he had “lost” a son, and blamed the medical team. However, the full multidisciplinary team approach was mandatory, and was fully supportive and understanding of the parental needs. The baby and family are now thriving in the paediatric endocrine clinic.