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Recruiting Observational

Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)

NCT07473804 · tracked via the Priya Life Science Italy tracker
Phase
Observational
Started
2025-04-14
Last updated
2026-03-16

Condition(s) studied

Neonatal Salt LossCongenital Adrenal Hyperplasia (CAH)

Study 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

Sex
ALL
Min age
1 Year
Max age
35 Years
Healthy volunteers
No
Inclusion Criteria: * 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 Criteria: • Diagnosis of 21OH ISC

Primary outcome measure(s)

  • Measurement of the frequency of the different endocrine causes of salt loss not due to 21-hydroxylase-deficient CAH. — at baseline
    Percentage of different endocrine causes of salt loss (%)

Trial sites (1)

FacilityCityRegionStatus
IRCCS Azienda Ospedaliero-Universitaria di Bologna Bologna Italy Recruiting

Other trials for the same condition

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07473804 on ClinicalTrials.gov ↗ ← All trials in Italy