Endocrine Abstracts

Autoimmune Polyglandular Syndrome Type I (APS 1) is a rare monogenic disease, in which simultaneous or sequential dysfunctions of endocrine or nonendocrine glands appear. A 19-year-old woman was admitted for inappetence, nausea, vomiting, abdominal pain, chronic constipation, generalized paresthesia and vertigo. She was known with primary hypoparathyroidism (from the age of 5), chronic autoimmune thyroiditis, mucocutaneous candidiasis, under treatment with calcitriol, calcium, magnesium and levothyroxine. The relevant clinical signs were periorbital, peribuccal and mucosae hyperpigmentation and in the areas exposed to pressure, but also hypotension and oligomenorrhoea. Laboratory assays revealed hepatocytolisis, hyponatremia (natrium: 118 nmol/l), hyperkalemia, hypoglycemia and hypocalcemia (ionic calcium: 4.05 mg/dl). Hormonal investigations indicated low cortisol value at 0800 h of 5.92 μg/dl, high ACTH level of 1092 pg/ml, decreased parathyroid hormone level of 2.5 pg/ml and normal thyroid stimulating hormone and free thyroxine values under levothyroxine. Follicle stimulating hormone (FSH) concentrations were high (23.4 μUI/ml), with low estradiol (<20 pg/ml), raising the suspicion of an ovarian insufficiency. The short Synacthen test revealed adrenal insufficiency. Taking into the consideration the association of the autoimmune diseases, the suspicion of APS1 was confirmed. An autoimmune hepatitis was excluded by specific negative antibodies. The endoscopy revealed chronic gastritis and the abdominal ecography indicated ovaries with follicular images. Large volumes of 0.9% saline were administrated and specific mineralocorticoid replacement was required. Hydrocortisone in bolus dose was adminstrated intravenous, and continued by oral therapy. After initiation of hydrocortisone treatment, a period of severe hypocalcemia followed, despite adequate intake of calcium and calcitriol. In contrast, under hydrocortisone substitution treatment, the menstrual cycle was adjusted, with normalization of estrogen and FSH levels at 2 months. In conclusion, we present a classic case of APS 1, but where hydrocortisone therapy for primary adrenal insufficiency has temporarily disturbed the calcium balance, but has normalized the ovarian function.