Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)
Recruiting
Observational Study
Neonatal Salt Loss
Congenital Adrenal Hyperplasia (CAH)
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 1 – 35
- Sex
- Any
- Study type
- Observational
- Participants needed
- 25 (estimated)
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna · Other
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About This Trial
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.
Trial Locations
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Eligibility 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 Experi…
Contacts