title: Autoimmune polyendocrinopathy associated with ring chromosome 18.
abstract: Phenotypic and clinical features of individuals with ring chromosome 18 [r(18)] vary with the extent of deletion of the short (18p-) or long arm (18q-). Most patients with r(18), therefore, demonstrate a clinical spectrum of both 18p- and 18q- deletions. Short stature, microcephaly, mental and motor retardation, craniofacial dysmorphism and extremity abnormalities are the most commonly reported features in patients with r(18). Abnormalities of chromosome 18, especially 18p- syndrome, are often reported with autoimmune thyroid disease and growth hormone deficiency, but reports of endocrine abnormalities associated with r(18) are rare. Here, we report a case of an African-American female with hyperthyroidism, type 1 diabetes mellitus, vitiligo and IgA deficiency associated with a r(18) chromosome complement. This patient additionally had mild intellectual disability and dysmorphic features. Karyotype analysis showed a de novo ring chromosome 18 (deletion 18q23-18qter and deletion 18p11.3-18pter). Although this unique association of autoimmune polyglandular endocrinopathy with ring chromosome 18 could be coincidental, we speculate that a gene or genes on chromosome 18 might play a role in the autoimmune process.
authors.affiliation: Department of Pediatrics, Division of Pediatric Endocrinology, CB#7039, 3341 MBRB, University of North Carolina, Chapel Hill, NC 27599-703, USA. njain@med.unc.edu
authors.forename: Nina
authors.initials: N
authors.lastname: Jain
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Reitnauer
authors.forename: Kathleen W
authors.initials: KW
authors.lastname: Rao
authors.forename: Arthur S
authors.initials: AS
authors.lastname: Aylsworth
authors.forename: Ali S
authors.initials: AS
authors.lastname: Calikoglu
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D004700:Endocrine System Diseases / Q000235:genetics* / Q000276:immunology; D005260:Female; D006801:Humans; D012303:Ring Chromosomes; D055815:Young Adult