Endocrine Abstracts

JOINT2522

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare autosomal recessive disorder caused by mutations in the AIRE gene. It is characterized by the triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. We report the case of a 33-year-old male suspected to have this rare syndrome and who was diagnosed with an underlying human immunodeficiency virus (HIV) infection.

Case presentation: We present a case report of a 33-year-old male admitted to our department for the management of poorly controlled type 1 diabetes mellitus (T1DM), with a hemoglobin A1c level of 10%, progressing over five years. Initially, the patient was placed on a basal-bolus insulin regimen; however, he self-discontinued rapid-acting insulin and reduced the dosage of long-acting insulin due to recurrent hypoglycemic episodes accompanied by recent weight loss. His medical history included a gastric ulcer and esophageal candidiasis. Laboratory investigations upon admission revealed hypocalcemia at 1.64 mmol/l(reference range:2.20-2.65mmol/l)and hyperphosphatemia at1.8 mmol/l(reference range:08-1.40 mmol/l), with normal magnesium levels. Further analysis demonstrated a low parathyroid hormone (PTH) level of 11 pg/ml (reference range: 15–65 pg/ml) and a slightly low vitamin D level of 26.8 ng/ml, consistent with a diagnosis of primary hypoparathyroidism. The coexistence of primary hypoparathyroidism and esophageal candidiasis raised suspicion for APECED syndrome, particularly given the patient’s autoimmune T1DM background. Diagnostic evaluations ruled out adrenal insufficiency via a Synacthen test, and autoimmune screening for celiac disease yielded negative results. During hospitalization, the patient developed inflammatory arthralgias in the wrists and ankles. A detailed clinical history revealed unprotected sexual encounters, prompting comprehensive immunological and infectious evaluations. While immunological tests were unremarkable, serological testing identified an underlying HIV infection. The presence of esophageal candidiasis led to the diagnosis of acquired immunodeficiency syndrome (AIDS).

Conclusion: This case illustrates the diagnostic complexity of differentiating APECED syndrome from immunodeficiency disorders such as AIDS, particularly in patients with overlapping clinical features such as hypoparathyroidism and recurrent infections like esophageal candidiasis. The unexpected diagnosis of HIV infection in this patient underscores the necessity of considering infectious etiologies in the differential diagnosis of polyendocrine disorders, even in the presence of autoimmune conditions like T1DM.