Case report: Klinefelter syndrome and autoimmunity syndrome and autoimmunity

Abstract

Background: A 43 year old man presented to Rheumatology clinic following a referral from his GP regarding Raynaud’s phenomenon. The gentleman had a background of Klinefelter syndrome and paranoid schizophrenia. In addition he reported a history of mouth ulcers, some mouth dryness and chest tightness. His past medical history also included a pulmonary embolism and a DVT. His medications included testosterone supplementation and warfarin. Methods: On clinical examination he was a tall gentleman of youthful appearance, with gynaecomastia and sparse body hair. A few of his fingertips were blue and dusky with skin thickening from a healed digital ulcer, and his feet showed moderate acrocyanosis. Blood tests revealed positive ANA antibodies, with anti-Ro antibodies and weakly positive anti-La; with the following titres: SS-A/Ro antibodies >240 EliA kU/L and SS-B/La antibodies 24 EliA kU/L. He was also Lupus anticoagulants positive. His testosterone level had previously been 1.0 nmol/L. He was felt to have primary Sjögrens in the context of Klinefelter syndrome. His venous thromboemboli are likely due to a combination of low androgens and an underlying anti-phospholipid syndrome.