Introduction: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that predominantly affects women. The coexisting Klinefelters syndrome (47,XXY) and SLE was rare.
Observations: We report a case of a middle-aged male had SLE discovered by arthralgia. He presented hypogonadism. Hormonal examinations showed a low serum testosterone level (0.3 ng/ml), and high follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels (24.1 mlU/ml and 20.2 mlU/ml. Chromosomal analysis revealed a 47,XXY. The diagnosis was therefore Klinefelters syndrome (KS) and systemic lupus erythematosus (SLE).
Discussion: This case illustrates that male with Klinefelter Sydrome (KS) may develop SLE manifestations. KS is occasionally associated with autoimmune diseases, such as SLE. A genetic polymorphism on the X chromosome might help explain the female predominance in SLE. This hypothesis could explain the co-existing Klinefelters syndrome (47,XXY) and SLE. This autoimmune disease could also be improved by testosterone administration.
Conclusion: Increased diagnostic vigilance of KS in male with SLE is important in order to recognize this diagnosis, the effects of hypogonadism and effects of replacement treatment. Screening for other autoimmune diseases should be recommended.
18 - 21 May 2019
European Society of Endocrinology