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.

NCT Number	NCT07473804
Lead Sponsor	IRCCS Azienda Ospedaliero-Universitaria di Bologna
Conditions	Neonatal Salt Loss, Congenital Adrenal Hyperplasia (CAH)
Enrollment	25 participants
Start Date	2025-04-14
Primary Completion	2026-12-31 (estimated)
Study Completion	2026-12-31 (estimated)
Updated on ClinicalTrials.gov	2026-03-16