What to do when it is unclear if a newborn baby is a boy or a girl? You can expect to see atypical genitalia at least once during the course of your career. Most babies born with a difference in sex development (DSD) have genitalia that look different.

There are many conditions which cause DSD. Your responsibility is to recognise atypical genitalia, which could signify a DSD, to support the family and refer appropriately. Early detection and referral of newborns with a potential DSD allows the following:

  • Expert handling of sensitive issues
  • Prompt investigation for potentially harmful conditions
  • Timely coordination of care and care planning

Learning outcomes

This short, interactive module will cover the following:

  • Defining sex in an embryo
  • Confidently examining newborn genitalia and identifying possible differences of sex development (DSD)
  • Recognising when to refer babies with suspected DSD
  • Who is involved in the care of a baby with atypical-appearing genitalia?
  • How to support families affected by DSD
  • How to talk to families when there is uncertainty about diagnosis

Study time: 30 minutes (this module includes an interactive video of 12 minutes' duration)

Original content: 2023
Next review: 2026