Endocrine Abstracts

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is an autoimmune inherited disorder, a potentially underdiagnosed clinical entity, caused by mutations in the autoimmune regulatory gene that can present with varying symptomatology as it affects various organs, posing both a diagnostic and management hurdle. We report a case to highlight this complexity.

Case report: Case details involves a female who first presented in childhood with rash, eye redness, photophobia and tenderness following MMR vaccination in childhood, treated as a mild viral inflammatory process. Months later she developed lethargy, chronic diarrhoea, abdominal discomfort which necessitated parenteral feeding. She had evidence of multiple electrolyte imbalances involving sodium, potassium and calcium first thought to be due to persisting diarrhoea. Testing confirmed a diagnosis of symptomatic hypocalcaemia secondary to hypoparathyroidism (Low Calcium, Low parathyroid hormone, Normal Vitamin D) with evidence of adrenal insufficiency low 9:00am Cortisol, suboptimal response to short synacthen test). In her late teens, she presented with amenorrhoea of 6 months duration and hot flushes. Hormone profile confirmed premature ovarian failure (FSH -166IU/l, LH-165IU/l and Oestrogen 105 pmol/l) treated with combined hormone replacement therapy. Genetic testing revealed Chromosome 13 deletion in younger brother (milder disease expression with only alopecia and hypoparathyroidism) and both parents (asymptomatic carriers). Other non-endocrine pathologies present in this case include Alopecia, Autoimmune keratitis, Palindromic rheumatism, Nephrocalcinosis, and Thrombocythemia.

Conclusions: APS-1 is rare and presents with enormous variability. It typically presents with a triad of hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis, not a feature in our case. Management involves collaboration with several specialities as a result.