Endocrine Abstracts

Introduction: Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions. The most frequently found are Hashimoto’s thyroiditis, type 1 diabetes, coeliac disease, and inflammatory bowel disease. In patients with TS, Addison’s disease isolated or combined with other autoimmune disease as type 2 polyglandular autoimmune syndrome, is a rare finding.

Case report: We report a case of a 41-year-old female patient, with severe asthenia, anorexia, and several episodes of lipothymia. Personal history of TS with a 45,X/46,XX karyotype, diagnosed when investigating for premature ovarian failure, vitiligo, and Graves’ disease treated with 12 mCI of radioactive iodine with subsequent hypothyroidism. Physical exam showed marked melanodermia, BP=95/44 mmHg. Biochemical investigation: ACTH=2288 pg/ml (9–52), cortisol=3.6 μg/dl (5–25), active renin=124 μg/ml (7–76), aldosterone=9.9 pg/ml (40–310), DHEA, SO₄ <0.26 μg/ml (0.35–4.3), androstenedione <0.3 ng/ml (0.5–3.4), anti-21 hydroxylase antibody=8.9 U/ml (<1), K⁺=4.7 mEq/l (3.5–5), remaining laboratory results unremarkable. Rapid tetracosactide test: cortisol at 0’=4.5 μg/dl, at 60’=3.5 μg/dl. Type 2 polyglandular autoimmune syndrome screening: positivity of anti-GAD65 antibody (1.1 U/ml; n<1) and anti-insulin antibody (0.5 U/ml; n<0.4), but with no diagnosis criteria for type 1 diabetes; antiparietal cells antibody positive with elevated gastrin (1411 pg/ml; n<90) but with no pernicious anemia; coeliac disease and antiphospholipid antibodies were all negative. Abdominal CT revealed ‘right adrenal gland almost unnoticeable, probably due to hypoplasia; left adrenal gland asymmetric, with decreased thickening of the left arm’.

The patient was started on substitutive therapy with hydrocortisone, 100 mg, t.p.d., i.v. and SOS until six times per day, then oral hydrocortisone 20 mg, s.i.d. plus 10 mg, b.i.d., fludrocotisone, 0.1 mg, s.i.d., thyroxine was decreased from 125 to 75 μg/day, with clinical and laboratorial improvement, having restarted her professional activity.

Conclusion: Patients with TS are at excess risk of autoimmune diseases, stressing the importance of a systematic screening during the follow up. In the event of one autoimmune endocrinopathy, most likely thyroid disease or type 1 diabetes, autoimmune polyglandular syndrome must be considered, as a timely diagnosis can reduce the morbidity and mortality potentially related with adrenal insufficiency.