Donatella Capalbo, Cristina Moracas, Marco Cappa, Antonio Balsamo, Mohamad Maghnie, Malgorzata Gabriela Wasniewska, Nella Augusta Greggio, Federico Baronio, Carla Bizzarri, Giusy Ferro, Alessandra Di Lascio, Marianna Rita Stancampiano, Sara Azzolini, Giuseppa Patti, Silvia Longhi, Mariella Valenzise, Giorgio Radetti, Corrado Betterle, Gianni Russo, Mariacarolina Salerno
CONTEXT: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. OBJECTIVE: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI. PATIENTS AND METHODS: Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected. RESULTS: The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3...
March 8, 2021: Journal of Clinical Endocrinology and Metabolism