RecruitingNCT07473804
Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Enrollment
25 participants
Start Date
Apr 14, 2025
Study Type
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
Min Age: 1 YearMax Age: 35 Years
Inclusion Criteria4
- Patients with a diagnosis of endocrine-related salt loss, defined by laboratory findings of hyponatremia (serum sodium \<130 mEq/L)
- Age at onset of salt loss between 0 and 60 days of life
- Patients born between January 1, 1989 and December 31, 2023 and managed at the Experimental Center
- Obtained Informed consent
Exclusion Criteria1
- • Diagnosis of 21OH ISC
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Locations(1)
View Full Details on ClinicalTrials.gov
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NCT07473804