hrp0098p2-209 | Multisystem Endocrine Disorders | ESPE2024
Yankova Stefka
, Balabanski Lubomir
, Yaneva Slavyana
, Atanasoska Maya
, Yaneva Natasha
, Arshinkova Margarita
, Stoeva Iva
Introduction: Adrenal insufficiency is a rare, but potentially fatal medical condition, most frequently congenital in children. Rapid and accurate diagnosis is imperative for effective treatment. A growing number of causative gene mutations in overlapping clinical phenotypes and different syndromes which share adrenal insufficiency as one of the main characteristics were published recently.Case Presentation: An infant (b...