Front Endocrinol (Lausanne)
January 2023
Background: Undiagnosed congenital adrenal hyperplasia (CAH) can cause adrenal incidentalomas, but the frequency is unclear.
Objectives: This study aimed to investigate the prevalence of CAH in a population with adrenal incidentalomas and report the clinical characterization.
Material And Methods: This was a prospective study performed at a regional hospital from 2016 to 2021.
Background: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state. Adult presentation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome has rarely been described, but is potentially underdiagnosed in the emergency room. In the case of acute hyperammonemia, prompt diagnosis is essential to minimize the risk of brain damage and death.
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