Endocrine Abstracts

Introduction: APECED syndrome is characterized by the three most common components of the condition, i.e. mucocutaneous candidiasis, autoimmune hypoparathyroidism, and Addison’s disease. Presence of two of these components suffices for diagnosis.

The case: A 33-year-old female patient presented to the endocrinology polyclinic for weakness, nausea, vomiting, dizziness, recurring vaginal itch, and discharge for 1 year, intermittent dysphagias and amenorrhea in July 2013. With no relevant findings in her history or familial history, the patient’s physical examination revealed orthostatic hypotension, oral angular stomatitis, geographic tongue and ulcerative lesion on the tongue and bilateral nail dystrophy and her vaginal examination demonstrated white plaques consistent with candidiasis. Biochemical investigations yielded the following results: basal cortisol: 3 μg/dl (6.2–19.4), short Synacthen test: 0 min, cortisol: 3 μg/dl 30 min: 3 μg/dl. aldosterone: 7 pg/ml (29.4–161.5), plasma renin: 46 ng/l (3–16), FSH: 44.2 mIU/ml (postmenopausal 25.8–134.8), LH:58 mIU/ml (postmenopausal 7.7–59), estradiol<20 pg/ml (postmenopausal 5–54). Other laboratory test results were normal. Gastroscopy as performed and the results were consistent with candidal esophagitis, decreased esophageal peristaltism and antral gastritis. The patient with primary adrenal insufficiency, chronic mucocutaneous candidiasis, ectodermal dystrophy, primary hypogonadism was diagnosed with APECED syndrome. The patient was also started on treatment with prednisolone 7.5 mg/day, fludrocortisone 0.1 mg/day, norgestrel+estradiol valerate tablets 1×1 and placed under follow-up of endocrinology polyclinic and gastroenterohepatology polyclinic.

Conclusion: Patients who present with primary adrenal insufficiency may have isolated adrenal insufficiency but this may also be a component of autoimmune endocrinopathy or APECED syndrome, as was in our patients. If left untreated, systemic candidiasis may lead to untoward consequences which may be as severe as esophageal perforation, especially in the presence of esophageal involvement. Therefore, patients with primary adrenal insufficiency must be investigated carefully for other concomitant hormone deficiencies and systemic candidiasis at the time of their initial presentation.