Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients

Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. We retrospectively analyzed the genetic and clinical characteristics of 111 non-21OHD PAI patients in China. STAR and NR0B1 were the most frequently mutated genes in Chinese patients with non-21OHD PAI. The age of onset was dependent on etiology. Clinical characteristics (17OHP, VLCFA, external genitalia, blood pressure and skeletal malformation) can help differential diagnosis of PAI. Based on the above findings, we developed a diagnostic process that can help identify PAI in Chinese children quickly and comprehensively. This research provides valuable insights into the genetic and clinical characteristics of PAI. (By Dr. Wenjuan Qiu, https://jmg.bmj.com/content/early/2023/08/15/jmg-2022-108952 )

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