Causes of newborn salt loss beyond 21‑hydroxylase deficiency
Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)
This project sees how often rare endocrine conditions besides 21‑hydroxylase deficiency cause dangerous salt loss in newborns and describes their clinical, genetic, and treatment features.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 25 (estimated) |
| Ages | 1 Year to 35 Years |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 1 site (Bologna) |
| Trial ID | NCT07473804 on ClinicalTrials.gov |
What this trial studies
This observational, retrospective cohort reviews neonatal salt‑loss cases managed at IRCCS Azienda Ospedaliero‑Universitaria di Bologna from 1989 to 2023. Eligible infants had onset of salt loss between birth and 60 days with documented serum sodium <130 mEq/L and were confirmed not to have 21‑hydroxylase deficiency. Investigators extract clinical presentation, laboratory data, genetic test results, treatments (salt replacement, mineralocorticoid and/or glucocorticoid therapy) and outcomes to define incidence and the spectrum of congenital endocrine causes. The analysis aims to improve recognition, describe genotype–phenotype correlations, and summarize management approaches for these rare conditions.
Who should consider this trial
Good fit: Newborns who developed salt loss with serum sodium <130 mEq/L between 0 and 60 days of age, were managed at the Bologna center between January 1, 1989 and December 31, 2023, do not have 21‑hydroxylase deficiency, and whose guardians provided consent.
Not a fit: Infants whose salt loss is clearly due to infection or other non‑endocrine causes, those already diagnosed with 21‑hydroxylase deficiency, or those born/treated outside the specified center and dates are unlikely to benefit from inclusion.
Why it matters
Potential benefit: If successful, this work could help clinicians diagnose non‑21OH causes of neonatal salt loss more quickly and choose the right treatments to reduce complications.
How similar studies have performed: Prior retrospective series, including an Italian cohort from 2006–2015, have reported proportions and features of endocrine neonatal salt loss but many rare disorders remain incompletely described.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Bologna
- IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Italy (Recruiting)
Study contacts
- Study coordinator: Federico Baronio
- Email: federico.baronio@aosp.bo.it
- Phone: 00390512144816
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.