Insights Into Pediatric Non-congenital Adrenal Hyperplasia: A Review Based on 5 Different Rare Cases with Primary Adrenal Insufficiency
Turkish Archives of Pediatrics, vol.60, no.3, pp.258-267, 2025 (ESCI, Scopus, TRDizin)
- Publication Type: Article / Article
- Volume: 60 Issue: 3
- Publication Date: 2025
- Doi Number: 10.5152/turkarchpediatr.2025.24339
- Journal Name: Turkish Archives of Pediatrics
- Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Page Numbers: pp.258-267
- Keywords: ACTH resistance, autoimmune adrenal insufficiency, familial glucocorticoid deficiency, primary adrenal insufficiency, triple A syndrome
- Ankara University Affiliated: Yes
Abstract
Adrenal insufficiency presents a significant clinical challenge due to its diverse etiologies and potentially life-threatening consequences. This review highlights the spectrum of adrenal insufficiency, focusing on primary adrenal insufficiency (PAI). Childhood PAI, predominantly congenital, presents unique diagnostic and management considerations. An aspect of this review is the discussion of PAI related to non-congenital adrenal hyperplasia, 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 diagnostic mysteries. There is a need for further research and elucidation of molecular etiopathogenesis in adrenal insufficiency. Clinicians are pivotal in identifying these rare diseases and providing lifesaving outcomes.