Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report

Background Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency. Case presentation We report a 20-year-old male who was clinically diagnosed with APS-1 at the age of 15. He was admitted to our department this time for suffering from polyuria and polydipsia for 6 months and was finally diagnosed with diabetes insipidus. Whole-exome sequencing (WES) revealed a novel compound heterozygous mutation of the AIRE gene -the c.239 T > G (p.Val80Gly) variant on one allele and the copy number variant (CNV) of 21q22.3(chr21:45,670,150-45,706,528)*1 on the other. Conclusions This case suggests that diabetes insipidus is a rare component of APS-1 and expands the variety of mutations on AIRE gene.

Automated summary

This case report describes a 20-year-old male diagnosed with APS-1 and presenting with symptoms of diabetes insipidus. Through whole-exome sequencing (WES), a novel compound heterozygous mutation in the AIRE gene was identified, expanding the understanding of mutations associated with APS-1.