Cetin Sirmen Kizilcan, Siklar Zeynep, Ozsu Elif, Aycan Zehra, Berberoglu Merih
Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Türkiye.
Turk Arch Pediatr. 2025 May 2;60(3):258-267. doi: 10.5152/TurkArchPediatr.2025.24339.
Adrenal insufficiency presents a significant clinical challenge due to its diverse etiologies and potentially life-threatening consequences. This review highlights the spectrum of adrenal insuf- ficiency, focusing on primary adrenal insufficiency (PAI). Childhood PAI, predominantly con- genital, presents unique diagnostic and management considerations. An aspect of this review is the discussion of PAI related to non-congenital adrenal hyperpla- sia, particularly adrenocorticotropic hormone (ACTH) resistance syndromes and autoimmune adrenal insufficiency. The clinical presentation, diagnosis, and treatment management of these rare childhood PAI types are assessed through 5 case studies. Despite advancements in genetic understanding, some cases are unsolved and remain diag- nostic mysteries. There is a need for further research and elucidation of molecular etiopatho- genesis in adrenal insufficiency. Clinicians are pivotal in identifying these rare diseases and providing lifesaving outcomes.
肾上腺功能不全因其病因多样且可能危及生命的后果而带来重大的临床挑战。本综述重点介绍了肾上腺功能不全的范围,着重关注原发性肾上腺功能不全(PAI)。儿童期PAI主要为先天性,具有独特的诊断和管理考量。本综述的一个方面是讨论与非先天性肾上腺增生相关的PAI,特别是促肾上腺皮质激素(ACTH)抵抗综合征和自身免疫性肾上腺功能不全。通过5个病例研究评估了这些罕见儿童PAI类型的临床表现、诊断和治疗管理。尽管在遗传学认识方面取得了进展,但一些病例仍未得到解决,仍然是诊断之谜。需要进一步研究并阐明肾上腺功能不全的分子发病机制。临床医生在识别这些罕见疾病并提供挽救生命的结果方面起着关键作用。