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

Recruiting now

Conditions studied: Neonatal Salt Loss, Congenital Adrenal Hyperplasia (CAH)

In brief

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.

Key facts

Study ID

NCT07473804

Run by

IRCCS Azienda Ospedaliero-Universitaria di Bologna

People needed

25

Starts

2025-04-14

Expected to finish

2026-12-31

Last updated by the study team

2026-03-16

Who can join

Age: 1 and older, up to 35. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• Diagnosis of 21OH ISC

Where it is running

• IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Italy (enrolling)

Full record on ClinicalTrials.gov

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