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Congenital adrenal hyperplasia

Hyperplasia adrenalis congenita · Vrozená hyperplazie nadledvin

What it is

An inherited enzyme defect (21-hydroxylase in 95%) leaves the adrenal glands short of cortisol and aldosterone and overproducing male hormones; about 1 in 15,000 births.

Symptoms & signs

  • Salt-wasting crisis in the first weeks: vomiting, dehydration, shock
  • genitalia of ambiguous appearance in girls
  • early pubic hair and fast growth in childhood
  • short adult height
  • excess hair, irregular periods and reduced fertility

🚩 Get help if…

  • call 112 / 911 now Newborn vomiting, not feeding, drowsy or floppy in weeks 1–3
  • call 112 / 911 now Vomiting or illness in a known child — give the emergency steroid shot
  • see a doctor soon Genitals that look unclear at birth
  • see a doctor soon Early pubic hair, fast growth or acne in a young child

Where it strikes

Medical treatment

  • Newborn screening (17-hydroxyprogesterone)
  • lifelong hydrocortisone; fludrocortisone and salt in infancy
  • sick-day rules, double doses and an emergency injection
  • monitoring of growth and bone age
  • genital surgery — timing debated
  • Crinecerfont (CRF1 blocker) — CAHtalyst trials: lower androgens and lower steroid doses; FDA-approved 2024 trials support

Natural & lifestyle

  • Extra salt and fluids for infants and in heat
  • medical alert card or bracelet

Emerging & experimental

  • Modified-release hydrocortisone — smoother cortisol levels; its trial missed its main goal
  • Dexamethasone in pregnancy to prevent virilisation of girls — works, but concerns about the child's memory and mood keep it to research mixed evidence
  • gene therapy

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Adrenal 'support' supplements and adaptogens — cannot replace cortisol; stopping hydrocortisone can kill not confirmed in trials
  • Liquorice to hold salt — untested; unpredictable effect anecdotal / traditional

ICD codes