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The presentation of congenital adrenal hyperplasia in an unscreened population.

Tracey A ConlonColin Patrick HawkesJennifer J BradyNuala P Murphy
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2021)
The incidence of CAH is higher in Ireland than in other unscreened populations. In the absence of screening, clinicians should be aware of the possibility of CAH and appropriate investigations should be urgently requested. Life-threatening salt-wasting is the most frequent clinical presentation and many cases could be detected prior to decompensation if newborn screening were introduced.
Keyphrases
  • risk factors
  • palliative care
  • case report