Clinical case report: History of diagnosis and clinical features of type autoimmune polyglandular syndrome 1

Abstract

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease with autosomal recessive inheritance and it caused by muta-tions in the autoimmune regulator (AIRE) gene. This disease has clinical polymorphism that including besides endocrinopathies other organ-specific manifestations and that complicates to diagnose of this condition on time. However, most often APS-1 has a characteristic debut and a certain stage of clinical symptom manifestation. This article describes a case report of an 18-year-old patient with confirmed APS-1, in which the course of disease was erased over a long period of life and didn’t meet of clinical criteria for the diagnosis in this syndrome. A high quality of life for such patients is possible with timely, individually selected re-placement therapy with subsequent follow-up. It is important to remember the need for screening in risk groups for the formation of clinical forms of APS among the subjects presenting with a single endocrine pathology. The continuity of medical supervision by pediatric and adult endocrinological service physicians must be respected that can be traced on the example of the case from our practice.