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Table 1 Clinical, laboratory, and radiologic data for subgroup A: hypergonadotropic hypogonadal male patients with and without rheumatic/autoimmune disease (RAD)

From: High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction

Patient Age Endocrine and     
no. (years) genetic diagnosis Symptoms and disease duration Laboratory findingsa X-rays RAD
1 33 Klinefelter's syndrome; Mucocutaneous rash with ANA +; anti-DNA, 100 IU/dl; Normal SLE
   47,XXY Raynaud's phenomenon; 2 years LE cells +; ESR, 25 mm/h;   
     B27 (-); GMN, IIB WHOb   
2 18 Klinefelter's syndrome; Multiple venous thrombosis, ANA +; anti-Ro +; La +; Normal SLE
   47,XXY mucocutaneous rash, symmetrical anti-DNA, 30 IU/dl; ESR, 32 mm/h;   and
    polyarthritis; 6 weeks B27 (-); skin biopsy compatible with   APLS
     SLE; serum antiphospholipid + IgG   
3 20 Klinefelter's syndrome; Lumbar pain, morning stiffness, ESR, 5 mm/h; B27 (+) Ankylosis AS
   47,XXY/sexual Achilles tendinitis; 6 months;   of sacroiliac  
   chromatin X(90%) Schober's test, 4 cma   joints  
4 20 Testicular damage with Symmetrical arthritis of knees; ESR, 51 mm/h; LE cells +; Normal JRA
   hyperprolactinemia; 46,XY 15 years; Schober's test, 6 cma B27 (-); synovial biopsy;   
     rheumatoid arthritis   
5 44 Bilateral orchidectomy Chronic lumbar and hip pain, knee ESR, 50 mm/h; B27 (+) Bilateral AS
   due to carcinoma of testicle; arthritis, acute intermittent uveitis,   sacroiliitis  
   47,XY Achilles tendinitis; 6 years;    
    Schober's test, 4 cma    
6 32 Klinefelter's syndrome; Asymptomatic ESR, 10 mm/h; B27 (-) Normal None
   47,XXY(68%)/46,XY(32%)     
7 21 Gonadal dysgenesis with Asymptomatic ESR, 15 mm/h; B27 (-) Normal None
   mosaicism; 45,X/47,XYY     
8 17 Bilateral cryptorchidism, Asymptomatic ESR, 15 mm/h; B27 (-) Normal None
   orchidectomy; 46,XY     
9 31 True hermaphrodite; 46,XY Asymptomatic ESR, 41 mm/h; B27 (-) Normal None
  1. ANA = antinuclear antibodies; APLS = antiphospholipid syndrome; AS = ankylosing spondylitis; B27 = histocompatibility antigen B27; ESR = erythrocyte sedimentation rate; GMN = glomerulonephritis; JRA = juvenile rheumatoid arthritis; LE = lupus erythematosus; SLE = systemic lupus erythematosus. aNormal values: anti-DNA, <20 IU/dl; ESR, <15 mm/h; Schober's test, >5 cm. bWorld Health Organization [40].