Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)
IRCCS Azienda Ospedaliero-Universitaria di Bologna
25 participants
Apr 14, 2025
OBSERVATIONAL
Conditions
Summary
Neonatal salt loss can be caused not only by infections but also by rare endocrine disorders that resemble 21-hydroxylase deficiency but are not detected by neonatal screening. This study examines how often these conditions occur and describes their main clinical, genetic, and treatment features.
Eligibility
Plain Language Summary
Simplified for easier understanding
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Locations(1)
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NCT07473804