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

BMC Endocr Disord. 2021 Aug 3;21(1):154. doi: 10.1186/s12902-021-00822-6.

Abstract

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.

Keywords: Autoimmune polyendocrine syndrome type 1; Autoimmune regulator gene; Diabetes insipidus.

Publication types

  • Case Reports

MeSH terms

  • AIRE Protein
  • Adult
  • Diabetes Insipidus / complications
  • Diabetes Insipidus / genetics
  • Diabetes Insipidus / pathology*
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Polyendocrinopathies, Autoimmune / complications
  • Polyendocrinopathies, Autoimmune / genetics
  • Polyendocrinopathies, Autoimmune / pathology*
  • Prognosis
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • Transcription Factors