Congenital adrenal hyperplasia and adrenal crisis — Rapid

Synopsis

Recognise salt-wasting congenital adrenal hyperplasia and any childhood adrenal crisis before circulatory collapse, give hydrocortisone and isotonic fluid immediately, then provide precise glucocorticoid, mineralocorticoid, sick-day, growth, puberty and family-genetic follow-up.

Most congenital adrenal hyperplasia is 21-hydroxylase deficiency, causing cortisol deficiency with androgen excess; severe classic disease also causes aldosterone deficiency and salt wasting.
A newborn with atypical genital development needs urgent paediatric endocrine and differences-of-sex-development care, but a boy with salt-wasting CAH may have no external genital clue.
The UK newborn blood-spot programme does not currently screen nationally for CAH, so vomiting, weight loss and collapse in weeks two to three still depend on clinical recognition.
Adrenal crisis causes vomiting, abdominal pain, weakness, dehydration, hypotension or shock, hypoglycaemia, hyponatraemia and hyperkalaemia; fever or infection commonly triggers it.
First-line emergency medicine is hydrocortisone IM or IV immediately: 25 mg under 1 year, 50 mg from 1 to 5 years and 100 mg from 6 years, or the child's current personalised emergency dose.
Use ABCDE, check glucose and electrolytes and give 0.9% sodium chloride 10 ml/kg boluses for shock with repeated reassessment; add 10% glucose promptly for hypoglycaemia.
Take cortisol, ACTH, 17-hydroxyprogesterone, renin, aldosterone and stored samples before steroid only when this creates no treatment delay; hydrocortisone is lifesaving and takes priority.
During significant illness, use the written BSPED sick-day plan, commonly hydrocortisone 30 mg/m²/day in four divided oral doses when absorption is reliable, and inject if vomiting prevents dosing.
Classic CAH maintenance usually combines oral hydrocortisone in three divided doses with fludrocortisone, and infants may need sodium supplementation; a paediatric endocrinologist adjusts from growth, blood pressure, electrolytes, renin and androgen control.
Every child needs two emergency injection kits, a steroid emergency card, trained carers and school, travel supplies, medical identification and a plan for fasting, surgery, injury and transition.

Key red flags

Shock or hypoglycaemia in possible adrenal insufficiency requires immediate hydrocortisone before confirmatory results.

Vomiting in a steroid-dependent child means oral stress dosing may not be absorbed and emergency injection is needed.

A 2-week-old boy with vomiting, weight loss, hyponatraemia and hyperkalaemia may have CAH despite typical external genitalia.

Atypical genital development requires urgent electrolyte and glucose assessment as well as respectful DSD referral.

Severe hyperkalaemia with ECG change requires specific resuscitation alongside steroid and fluid replacement.

Headache, visual symptoms or multiple pituitary deficits suggests central adrenal insufficiency from intracranial disease.

Repeated crises may indicate inadequate supplies, misunderstanding, access barriers, deliberate omission or safeguarding concerns.

Adrenal crisis

Shock, severe weakness, vomiting, hypoglycaemia or major electrolyte disturbance requires hydrocortisone before diagnostic certainty.

Investigation priorities

First-line glucose and electrolytesFirst stepFirst line

Detect hypoglycaemia, sodium loss, hyperkalaemia, renal impairment and acidosis during suspected crisis.

Management branches

Crisis resuscitationGive steroid before certainty

A child has shock, vomiting, hypoglycaemia or major electrolyte abnormality with known or possible adrenal insufficiency.

Give age-banded IM or IV hydrocortisone immediately and collect diagnostic blood first only if access is already available.
Treat shock with 0.9% sodium chloride 10 ml/kg boluses and hypoglycaemia with 10% glucose under paediatric resuscitation guidance.
Monitor cardiac rhythm, glucose, sodium and potassium, treat sepsis or other precipitant and continue stress hydrocortisone with specialist input.

Long-term balanceControl androgen without suppressing growth

The child attends routine CAH review or shows altered growth, puberty, blood pressure or biochemical control.

Review actual dose timing, adherence, growth velocity, weight, blood pressure, bone age and pubertal development.
Adjust hydrocortisone, fludrocortisone and salt using clinical pattern, electrolytes, renin and androgen trends without normalising every marker aggressively.
Address fertility, testicular adrenal rest risk, body image, mental health and emergency independence through adolescence and transition.

Key medicines

Emergency hydrocortisoneGive intramuscularly or intravenously immediately: 25 mg under age 1 year, 50 mg from age 1 to 5 years and 100 mg from age 6 years, unless the child's current emergency plan provides an equivalent personalised dose.Do not delay for blood sampling or IV access because IM administration is effective; continue stress replacement and taper only with endocrine guidance after recovery.

Hydrocortisone maintenance and sick-day dosingClassic CAH maintenance is commonly 10 to 15 mg/m²/day orally in three divided doses; for significant illness with reliable absorption, BSPED plans commonly use 30 mg/m²/day in four divided doses.Vomiting requires injection, not repeated oral dosing; chronic excess impairs growth and causes metabolic harm, while underdosing risks androgen excess and crisis.

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