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.
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
None
All patients of both sexes born between January 1989 and December 2023 who presented with salt-loss syndrome within the first two months of life due to an endocrine cause other than 21-hydroxylase-deficient CAH, and who were evaluated at the Pediatric Unit, Pediatric Endocrinology and Metabolic Diseases Program of the IRCCS AOUBO.
Cohort
Retrospective
Not listed
Measurement of the frequency of the different endocrine causes of salt loss not due to 21-hydroxylase-deficient CAH.
Percentage of different endocrine causes of salt loss (%)
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