Endocrine complications in primary immunodeficiency diseases in Japan

Background In spite of the accumulating evidence on the interaction between the immune and endocrine systems based on the recent progress in molecular genetics, there have been few epidemiological studies focused on the endocrine complications associated with primary immunodeficiency diseases (PID). Objective To investigate the prevalence and clinical features of endocrine complications in patients with PID in a large-scale study. Design and participants This survey was conducted on patients with PID who were alive on 1 December 2008 and those who were newly diagnosed and died between 1 December 2007 and 30 November 2008 in Japan. We investigated the prevalence and the clinical data of the endocrine complications in 923 patients with PID registered in the secondary survey. Results Among 923 PID patients, 49 (5.3%) had endocrine disorders. The prevalence of the endocrine diseases was much higher in patients with PID than in the general population in the young age group, even after excluding patients with immune dysregulation. Conclusions Endocrine disorders are important complications of PID. Analysis of the endocrine manifestations in patients with PID in a large-scale study may provide further insights into the relationship between the immune and endocrine systems.