A Rare Presentation of Polyglandular Autoimmune Syndrome Type 1

Abstract

PGA-I, also known as autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy (APECED) or as Whitaker syndrome is a rare sporadic autosomal recessive disorder. (1,2,3)Two out of the following three major features are required for clinical diagnosis of PGA(1,3)-1.autoimmune adrenal insufficiency 2.hypoparathyroidism 3.mucocutaneous candidiasis Other associated features include gonadal failure, hypothyroidism, type-I diabetes mellitus, dental enamel hypoplasia, ungula dystrophy, tympanic membrane sclerosis, vitiligo, keratopathy, pernicious anaemia, malabsorption, asplenism, achalasia,cholelithiasis, chronic active hepatitis, Sjogrens syndrome,haemolytic anaemia, vasculitis, and hypophysitis (1,2,3) The usual order of manifestation is candidiasis followed by hypoparathyroidism and then addisons.(4) We present a rare presentation of type 1 APS presenting without candidiasis (.In a single case of PGA-I reported by Bhansali and colleagues, no candidiasis was noted in an East Indian boy aged 16 years.(5)) and with Addisons being the first manifestation. Our case had adrenal insufficiency, hypoparathyroidism and bilateral cataracts.No evidence of candidiasis or ectodermal dystrophy was seen highlighting the varied presentation of PGA-1.