Insights Into Pediatric Non-congenital Adrenal Hyperplasia: A Review Based on 5 Different Rare Cases with Primary Adrenal Insufficiency

Cetin S. K., ŞIKLAR Z., ÖZSU E., AYCAN Z., BERBEROĞLU M.

Turkish Archives of Pediatrics, cilt.60, sa.3, ss.258-267, 2025 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 60 Sayı: 3
  • Basım Tarihi: 2025
  • Doi Numarası: 10.5152/turkarchpediatr.2025.24339
  • Dergi Adı: Turkish Archives of Pediatrics
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.258-267
  • Anahtar Kelimeler: ACTH resistance, autoimmune adrenal insufficiency, familial glucocorticoid deficiency, primary adrenal insufficiency, triple A syndrome
  • Ankara Üniversitesi Adresli: Evet

Özet

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.