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