ECE2024 Poster Presentations Late-Breaking (77 abstracts)
1Ibn Sina University Hospital, Endocrinology and Metabolic Diseases, Rabat, Morocco
Introduction: Autoimmune polyendocrine syndrome type 2 is a rare autosomal dominant life-threatening syndrome. It is defined by the presence of Addisons disease in combination with at least one of the known autoimmune diseases: thyroid autoimmune disease, type 1 diabetes, and hypogonadism. The coexistence of Addisons disease and autoimmune thyroid disease has been known as Schmidts syndrome. We are detailing the case of a patient who exhibited this syndrome abruptly without a family history.
Case: A 44 years-old male patient with non-known medical history, presented to the emergency department feeling lethargic, with multiple episodes of vomiting and giddiness. On examination patient had cold clammy extremity with signs of dehydration. Hyperpigmentation of face and gums was noted. PR -128/min, hypotensive blood pressure of approximately 75/55 mmHg, hypoglycemia at 0.4g/l, and a microvoltage with a peaked T-wave on the EKG. Laboratory blood tests showed an hyperkalemia of 7.2 mmol/l, hyponatremia of 122 mmol/l and a low cortisol level indicating an Addisonian crisis. Associated with a high TSH level at 83 mui/l and anti TPO was positive suggesting autoimmune thyroiditis. The patient was treated for adrenal insufficiency first followed by thyroid insufficiency. Noteworthy clinical and biological improvement observed.
Discussion: Schmidts syndrome is a rare disease and difficult to diagnose because the presentation depends on which gland is initially involved. It is more common in middle-aged females and is treatable if diagnosed early. It can be treated with respective substitution therapy. Early detection of the disease and appropriate management may reduce morbidity and mortality significantly in the patients with autoimmune poly glandular syndrome. Therefore, this case report can contribute to the medical literature on Schmidts syndrome, which can help in early diagnosis and improve patient outcomes.