PP64. KLINEFELTER SYNDROME AND SYSTEMIC LUPUS ERITHMATOHOSUS: CASE REPORT
CEFLE A¹, Cefle K², Ozturk S², Pehlivan D³, Palanduz S² ¹ Kocaeli Universty Medical Faculty,Dep. of Internal Medicine Division of Rhematology ² Department of Internal Medical Genetics; Istanbul Medical Faculty, Istanbul University ³Istanbul University Istanbul Medical Faculty, Department of Medical Genetics e-mail: davutpehlivan@yahoo.com
*Corresponding Author:
page: 76

Abstract

Klinefelter syndrome is the most frequent cause of primary hypogonadism and infertility in men. The classical form is characterized by 47 XXY phenotype, eunuchoid habitus, skin and skeletal alterations, azoospermia and personality and behavioural problems. We report a case of a patient SLE in a 41 year-old man with Klinefelter syndrome. The proband is a 41-year-old Turkish man affected by Klinefelter syndrome, the classical type with 47 XXY karyotype. He complained of pain of the back, elbows, shoulders joints, knee joint, ankle at occasionally. Laboratory workup revealed high ESR values, elevated antinuclear antibody titer and polyneuropathy. He has described to resemble of Raynaud's phenomenon. He was treated with steroid therapy. We report a male patient with SLE where chromosomal analysis revealed that the karyotype was 47,XXY. He presented with arthralgias, Raynaud's phenomenon and paresthesias. Laboratory studies showed an increased ESR, leukopenia, increased levels of antinuclear antibody(+3) and normal C3, C4 levels. He was diagnosed with SLE. Because his history included infertlity, a conventional cytogenetic analysis was performed, which showed the karyotype to be 47,XXY. On endocrinological studies, testesteron was high and LH and FSH was high. There are numerous case reports emphasing be co-occurence of SLE with the Klinefelter syndrome. It has been hypothesied that hormonal abnormalities in Klinefelter syndrome predispose sých individiduals to SLE and other autoimmune disorders including rhomatoid arthrittis, type 1 diabetes mellitus and scleroderma.The present case is afurther example for the co-occurence of SLE with Klinefelter syndrome.




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