De Preter Ariane, Rochtus Anne, Witters Peter, Rymen Daisy
Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
Department of Pediatric Endocrinology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
Mol Genet Metab Rep. 2025 May 26;43:101232. doi: 10.1016/j.ymgmr.2025.101232. eCollection 2025 Jun.
Primary adrenal insufficiency (PAI) in children is rare. It is mainly due to monogenetic disorders, with congenital adrenal hyperplasia being the most common cause in the first year of life. Although several inborn errors of metabolism (IEM) have been associated with PAI, increased awareness of PAI in IEM among both metabolic specialists and endocrinologists may improve patient outcomes. Here, we present a case series of patients with PAI and an IEM. Through a literature review, we discuss the various IEM that have been associated with adrenal insufficiency and explore the pathophysiological mechanisms linking these IEM to PAI. Based on the available data, pitfalls in the diagnosis of PAI in IEM are discussed and recommendations for early diagnosis are suggested. In addition, a non-exhaustive list of susceptible IEM was elaborated to encourage screening for PAI in IEM and vice versa.
儿童原发性肾上腺皮质功能减退症（PAI）较为罕见。其主要病因是单基因疾病，先天性肾上腺皮质增生症是1岁以内最常见的病因。尽管几种先天性代谢缺陷病（IEM）与PAI相关，但代谢专科医生和内分泌科医生对IEM中PAI认识的提高可能会改善患者的预后。在此，我们展示了一组PAI合并IEM患者的病例系列。通过文献综述，我们讨论了与肾上腺功能不全相关的各种IEM，并探讨了将这些IEM与PAI联系起来的病理生理机制。基于现有数据，讨论了IEM中PAI诊断的陷阱，并提出了早期诊断的建议。此外，还制定了一份不完整的易感IEM列表，以鼓励对IEM中的PAI进行筛查，反之亦然。
