Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Department of Emergency, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Front Endocrinol (Lausanne). 2024 Sep 16;15:1411774. doi: 10.3389/fendo.2024.1411774. eCollection 2024.
Primary adrenal insufficiency (PAI) is a rare medical condition, characterized by a deficiency in adrenal hormones. Although rare, PAI is a life-threatening disease requiring prompt recognition and treatment. However, symptoms of PAI are often non-specific and diagnosis can be challenging, causing frequent diagnostic delays. In adults, autoimmunity is the most common cause of PAI in industrialized countries, whereas in children, the most frequent etiology is represented by congenital defects of steroidogenesis and, in particular, by congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. A few recent case series from different countries have reported that autoimmunity is the second most common etiology of PAI in the pediatric age group. However, data on autoimmune PAI in children are still scant and the exact epidemiology, clinical manifestations, and long-term outcomes of this condition have yet to be defined. The scope of this review is to summarize the current knowledge on the etiology, presentation, and treatment of autoimmune PAI in childhood and to increase physicians' awareness of the signs that should raise an early suspicion of this condition.
原发性肾上腺功能不全（PAI）是一种罕见的医学病症，其特征是肾上腺激素缺乏。尽管罕见，但 PAI 是一种危及生命的疾病，需要及时识别和治疗。然而，PAI 的症状通常不具有特异性，诊断具有挑战性，导致频繁的诊断延迟。在成年人中，自身免疫是工业化国家 PAI 最常见的原因，而在儿童中，最常见的病因是类固醇生成的先天性缺陷，特别是由于 21-羟化酶缺乏导致的先天性肾上腺增生（CAH）。来自不同国家的少数近期病例系列报告称，自身免疫是儿童 PAI 的第二常见病因。然而，关于儿童自身免疫性 PAI 的数据仍然很少，这种疾病的确切流行病学、临床表现和长期结果仍有待确定。本次综述的目的是总结儿童自身免疫性 PAI 的病因、表现和治疗的最新知识，并提高医生对提示这种疾病的早期迹象的认识。
