Status: Recruiting
Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)
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.
Participants needed: 25
Trial details
Age: 1-35Biological sex: AllType: ObservationalSponsor: IRCCS Azienda Ospedaliero-Universitaria di BolognaUpdated: Mar 16, 2026Locations: 1
Eligibility criteria
Patients with a diagnosis of endocrine-related salt loss, defined by laboratory... [+3]