Case history

Three-week-old baby referred to the paediatric endocrine clinic from a general paediatrician with ambiguous genitalia, accompanied by very anxious and upset parents.

Previous history

Previous history

  • Only child
  • Non-consanguineous parents
  • No family history of DSD (differences in sex development)
  • No family history of unexplained neonatal deaths
  • Born at term
  • Normal vaginal delivery
  • Weight 4.53 kg
  • Clinically well

History

History

  • Antenatal ultrasound showed external genital appearance consistent with a boy
  • Parents decorated the nursery in blue and had bought “boy” toys and clothes
  • Male sex of rearing assigned at birth
  • Given a male name
  • Postnatal baby check revealed no testes in the scrotum

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

Conclusion

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.

Presented by Kate Davies,
Children’s Nursing, UK