Polyglandular syndrome type 2 during adolescence | L’adolescente affetto da una malattia rara per l’età: la sindrome polighiandolare autoimmune di tipo 2

Introduction: Primary adrenal insufficiency (PAI) in childhood is a life-threatening disease most commonly due to impaired steroidogenesis. Differently from adulthood, autoimmune adrenalitis is a rare condition amongst PAI’s main aetiologies and could present as an isolated disorder or as a component of polyglandular syndromes, particularly type 2. As a matter of fact, autoimmune polyglandular syndrome (APS) type 2 consists of the association between autoimmune Addison’s disease, type 1 diabetes mellitus and/or Hashimoto’s disease. Case presentation: We report the case of a 14 year-old girl who’s in charge of the Pediatric Endocrinology Centre in Verona due to a diagnosis of autoimmune polyglandular syndrome type 2 with an early onset of Addison’s disease at 8 years old and the subsequent development of an autoimmune thyroiditis with a 3 years’ lapse. The initial course of the disease was characterised by numerous crises of adrenal insufficiency, while later the treatment was adjusted in a tertiary hospital and the disease became easier to manage. Conclusions: APS type 2 is a rare condition during childhood, probably because it may remain latent for long periods before resulting in the overt disease. We recommend an early detection of APS type 2 and an adequate treatment of adrenal insufficiency in a tertiary hospital. Moreover, we underline the importance of a constant follow-up in patients with autoimmune diseases, since unrevealed and incomplete forms are frequent, especially in childhood.