PE30.5 | Ambiguous Genitalia — Summary & Reflection

KEY TAKEAWAYS

Ambiguous Genitalia — key take-aways:

• Definition: External genitalia that cannot be clearly assigned as male or female at birth — always requires investigation, never a 'wait and see'.
• Commonest cause in India: 21-hydroxylase deficiency (CAH) in a 46,XX infant — virilised externally, gonadally female, uterus present.
• Emergency: Salt-wasting crisis (days 5–15 of life): hyponatraemia + hyperkalaemia + hypoglycaemia + vomiting = IV hydrocortisone + saline immediately.
• Examination: Phallus size, labioscrotal fusion, gonad palpation (palpable gonad = testicular), urogenital anatomy, Prader grading.
• Urgent investigations: Karyotype, serum 17-OHP (>10,000 ng/dL = CAH), electrolytes, glucose, pelvic USS (uterus present = XX internal anatomy).
• Counselling: Do NOT assign sex; say 'we need more tests'; refer urgently to MDT (paediatric endocrinologist, urologist, geneticist, psychologist).
• Referral: All DSD cases to tertiary MDT; emergency transfer if in adrenal crisis.

REFLECT

A 46,XX child with CAH was mistakenly registered as male at birth because the clinician at a peripheral hospital said 'it looks like a boy'. The error was discovered at age 3. The family is devastated, the child's legal identity has to be changed, and the parents feel the doctor deceived them. Reflect on the communication principle that drives the rule 'never assign sex hastily': how does uncertainty — stated honestly — protect both the child's future autonomy and the family's trust? What systems (hospital policy, newborn examination checklists, MDT referral pathways) would help prevent this from happening in your future practice?