SAT-440 - Successful Oral Hydrocortisone Replacement in A Patient with IPEX Syndrome, Adrenal Insufficiency, and Total Parenteral Nutrition Dependence

Background:
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, life-threatening disorder caused by FOXP3 mutations leading to severe autoimmune disease. Adrenal insufficiency is an uncommon but serious endocrine manifestation. In patients with severe autoimmune enteropathy, extensive bowel resection, and total parenteral nutrition (TPN) dependence, oral glucocorticoid absorption is generally presumed to be inadequate, often necessitating lifelong intravenous steroid therapy.

Case Presentation:
We describe a 29-year-old man with genetically confirmed IPEX syndrome complicated by Crohn’s-like autoimmune enteropathy, extensive intestinal resections, TPN dependence, and secondary adrenal insufficiency from prolonged unsupervised glucocorticoid exposure. During hospitalization for septic shock, he received stress-dose intravenous corticosteroids and was subsequently transitioned to oral hydrocortisone. Given concerns regarding enteral absorption, oral hydrocortisone dosing was carefully titrated based on clinical symptoms and serial serum cortisol measurements. Following administration of oral hydrocortisone, serum cortisol levels rose appropriately (peak 35.1–56.2 µg/dL), confirming adequate gastrointestinal absorption. Symptoms of adrenal insufficiency resolved with dose adjustment, and the patient was stabilized on oral hydrocortisone (30 mg morning, 20 mg noon, 15 mg afternoon).

Outcome:
At two-week outpatient follow-up, the patient remained clinically stable without symptoms of adrenal insufficiency, despite ongoing TPN dependence and severe intestinal compromise.

Conclusion:
This case represents, to our knowledge, the first documented successful use of oral hydrocortisone replacement in a patient with IPEX syndrome, adrenal insufficiency, and TPN dependence following extensive bowel resection. Symptom-guided titration combined with serial cortisol monitoring allowed safe transition from intravenous to oral therapy. Oral hydrocortisone may be a viable alternative to parenteral steroids in select patients with severe intestinal dysfunction, potentially reducing complications associated with long-term intravenous therapy. Hydrocortisone absorption test,” ie testing serum cortisol level one hour after oral hydrocortisone administration when serum cortisol levels should peak in relation to medication, helped confirm absorption status of oral hydrocortisone.

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