Endocrine Abstracts

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive condition due to mutation in the autoimmune regulator (AIRE) gene which leads to a variable phenotype with endocrine and nonendocrine multisystem involvement. We present a challenging case of APECED with auto immune hepatitis, mineralocorticoid deficiency and short stature.

Case history: A 8-year-old girl born to consanguineous parents, presented at five months of age with oral candidiasis. At the age of one year, she developed persistent diarrhoea, skin, and nail infection. Aged four years, she presented with hypocalcaemic seizures and was diagnosed with hypoparathyroidism. She was started on alfacalcidol and calcium supplementation. At the age of 6 years, she was noted to have elevated liver enzymes with positive LKM antibodies. Liver biopsy revealed chronic hepatitis, for which she was started on prednisolone. She had a normal cortisol response to synacthen prior to starting prednisolone. The adrenal, thyroid peroxidase, GAD65, pituitary and intrinsic factor antibodies were negative. She was diagnosed with homozygous AIRE c.278T>p.(Ley93Gln) variant inherited from both parents. Her elder sibling had died at the age of 1 year due to suspected liver disease. At the age of 7.5 years, she presented with persistent hyponatremia and the renin was high with normal aldosterone level. The repeat adrenal antibodies were positive, and she was started on fludrocortisone and salt supplementation. She was on itraconazole for her onychomycosis nail infection and continued prednisolone for the hepatitis. It is likely that the prednisolone masked the onset of autoimmune adrenal insufficiency. Her growth was noted to be faltering despite normal dietary intake. IGF1, IGFBP3 and growth hormone stimulation test were normal. The renal function, ESR, fecal calprotectin and pancreatic elastase 1 were normal.

Discussion: APECED is a monogenic condition with immune dysregulation leading to multisystem autoimmune disorders predominantly affecting endocrine system. Depending on the genetic mutation varying degree of gastrointestinal manifestation has been reported in the literature presenting with growth impairment. Autoimmune enteropathy due to loss of enteroendocrine cells is a rarely identified entity.