Disorders of sex development — branching viva

Opening question

A two-week-old infant recorded as male with severe hypospadias and bilaterally impalpable gonads presents with vomiting, dehydration, hyponatraemia, hyperkalaemia, and hypoglycaemia. What is the diagnosis, which bedside finding at birth should have oriented the team, and what is your immediate plan? [11] [1]

Branch 1 — the resuscitation

Take the same child. Walk me through the resuscitation step by step, naming the fluid, the medication, the dose principle, and the physiological rationale for each. Why does the hyperkalaemia correct with the cortisol rather than needing specific treatment? [11]

Branch 2 — the karyotype and the classification

The karyotype returns as 46,XX. How do you classify this, what is the Chicago framework, and why is it built from the karyotype rather than from the appearance? Now the parents ask whether the genitalia should be surgically corrected before discharge — what is the principle, and what evidence and ethics underpin it? [1] [3]

Branch 3 — the adolescent presentation

Switch to a sixteen-year-old girl with primary amenorrhoea, normal breasts, scanty pubic hair, a blind vagina, no uterus, and a 46,XY karyotype. What is the diagnosis, what mechanism explains both the breasts and the absent uterus, and what is the long-term management including the decision around the intra-abdominal gonad? [7]

Closing — coordination and counselling

In one sentence, what is the principle of DSD management across the lifespan, and why does the general paediatrician sit at the centre of a multidisciplinary plan that defers non-consent surgery, names the condition honestly, and protects lifelong psychosocial and gonadal health? [3] [1]