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A case with SLE and Pseudohypoparathyreoidism

SLE is often associated with endocrine disorders.

We present a 19-year-old male patient with family history of diabetes type II, admitted for the dominating complaints of fever, arthralgia and arthritis, rash, weight loss and fatigue. Physical examination and investigations showed signs of vasculitis, hair loss, anemia, leucopenia, episcleritis, oral lesions, arthritis, nephritis, positive LE-phenomenon and high titres of ANA and anti-dsDNA antibodies. Those signs and criteria proved a diagnosis of SLE.

Another set of clinical features was revealed, including obesity, round face, hyperthelorism, saddle-back nose, divergent strabismus, short and broad fingers, dental enamel damage, catharacta, fibrous osteitis, positive Chvostek I, II and Weis symptoms. Seizures, growth and mental retardation were reported dating back from his early childhood. Laboratory findings of hypocalcaemia and hyperphosphoremia supported the diagnosis of Pseudohypoparathyroidism-Albright's hereditary osteodystrophy (AHO).

This case is reported for its rarity – a male patient with SLE and an inherited endocrinopathy. The association of AHO due to a genetically determined insufficiency of Gsa-cAMP-system with a disease, such as SLE, where an enhancement of Th2- mediated immune response is established, is intriguing and rises questions and speculations.

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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution 2.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Varbanova, B., Yotova, V. A case with SLE and Pseudohypoparathyreoidism. Pediatr Rheumatol 6 (Suppl 1), P253 (2008).

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