Introduction: 11-Beta-hydroxylase deficiency (11β-OHD) is the second most common cause of congenital adrenal hyperplasia. It leads to the accumulation of steroids precursors prior to the enzyme defect, notably 11-deoxycorticosterone (DOC), leading therefore to low renin hypertension and hypokalemia. Hence, patients with 11β-OHD are reportedly protected from adrenal crisis. Here, we report a case of a male with 11β-OHD presenting with acute adrenal insufficiency.
Observation: A 40-year-old male, following in our department for congenital adrenal hyperplasia due to 11β-OHD, was admitted for abdominal pain and vomiting. He had also headaches, chills without shortness of breath, that started one day before his admission leading to the diagnosis of Covid-19 infection. The patient was receiving glucocorticoid replacement therapy (hydrocortisone 30 mg b.i.d.) with good compliance. On examination, he had a blood pressure of 120/70 mmHg despite discontinuation of antihypertensive treatments (Calcium channel blocker, Beta-blocker and spironolactone). His heart rate was 114 bpm and his blood oxygen saturation rate was 95%. Laboratory analysis showed normal serum potassium level of 4.2 mmol/l, functional acute kidney failure and elevated C-reactive protein of 49 mg/l. The patient received hydrocortisone hemisuccinate 200 mg the first day with an improvement of his symptoms.
Discussion: Acute adrenal crisis is exceptional in patients with 11β-OHD. The diagnosis in our case was based on abdominal pain, vomiting, the abnormally normal blood pressure and serum potassium level, and the favorable progression after hydrocortisone hemisuccinate. It was hypothesized that regular treatment with hydrocortisone in these patients will suppress ACTH secretion and leads to a reduced accumulation of steroids precursors that may expose them to the risk of developing acute adrenal crisis in case of hydrocortisone therapy interruption or in the absence of doses adjustment in stressful conditions.
21 May 2022 - 24 May 2022